Affinage

F12

Coagulation factor XII · UniProt P00748

Length
615 aa
Mass
67.8 kDa
Annotated
2026-04-28
78 papers in source corpus 17 papers cited in narrative 13 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

F12 encodes coagulation Factor XII (Hageman factor), a plasma serine protease that initiates the contact activation pathway, driving both the intrinsic coagulation cascade and the kallikrein-kinin system to generate bradykinin. The 46C>T promoter polymorphism (rs1801020) reduces plasma FXII levels in a gene-dosage manner, prolonging aPTT and diminishing thrombin generation, and also attenuates kallikrein-mediated pro-renin activation (PMID:15116249, PMID:20814302, PMID:26969407). Gain-of-function mutations such as p.Thr309Lys cause hereditary angioedema with normal C1-inhibitor (HAE-FXII) by producing a glycosylation-deficient FXII with increased sensitivity to thrombin and kallikrein cleavage, leading to excess bradykinin generation (PMID:25952149, PMID:33725261). RNAi-mediated knockdown of F12 in vivo prevents pathological arterial and venous thrombosis without impairing hemostasis, establishing FXII as dispensable for normal hemostatic function but essential for pathological thrombus formation (PMID:30463937, PMID:32896690).

Mechanistic history

Synthesis pass · year-by-year structured walk · 7 steps
  1. 2004 High

    Establishing that a common F12 coding-region polymorphism (46C>T, rs1801020) quantitatively determines plasma FXII levels and influences thrombotic risk answered the question of whether genetic variation in FXII contributes to venous thrombosis and stroke.

    Evidence Family-based linkage scan (GAIT Project) and independent case-control genotyping with plasma FXII activity measurement

    PMID:15116249 PMID:15232129 PMID:15257949

    Open questions at the time
    • Mechanism by which reduced FXII paradoxically increases thrombotic risk was not explained
    • Effect on arterial thrombosis versus venous thrombosis not fully dissected
    • No functional assay demonstrating altered translation from the T allele
  2. 2009 High

    Fine-mapping by Bayesian QTN analysis resolved the F12 QTL to rs1801020 as the sole causal nucleotide governing plasma FXII levels, ruling out other linked variants.

    Evidence Re-sequencing of F12 locus in 40 individuals, genotyping 26 SNPs in 398 GAIT family members with measured genotype analysis

    PMID:19933701

    Open questions at the time
    • Molecular mechanism of translational or transcriptional regulation by the 46C>T variant not demonstrated
    • Population-level replication outside the GAIT cohort limited
  3. 2010 High

    Demonstrating that rs1801020 gene-dosage reduction of FXII propagates downstream to reduce thrombin generation (ETP, peak), FIXc, and FVIIc established FXII as a rate-limiting initiator of the intrinsic pathway in vivo.

    Evidence Calibrated automated thrombinography and coagulation factor assays in 566 participants stratified by genotype

    PMID:20814302

    Open questions at the time
    • Whether reduced thrombin generation explains the paradoxical thrombotic risk of low FXII remains unresolved
    • No intervention study to confirm causality
  4. 2015 High

    Identification of gain-of-function F12 mutations (p.Thr309Lys) as causative for hereditary angioedema with normal C1-inhibitor (HAE-FXII) answered how FXII hyperactivation links to bradykinin-mediated vascular permeability in humans.

    Evidence Genetic analysis and family studies across multiple independent cohorts with clinical phenotyping

    PMID:23994767 PMID:25134986 PMID:25952149

    Open questions at the time
    • Estrogen's mechanism in modifying clinical penetrance was not delineated at the molecular level
    • Whether other HAE-FXII variants operate by the same mechanism was unknown
  5. 2016 Medium

    Connecting the F12 rs1801020 variant to reduced plasma active renin via diminished FXII-driven prekallikrein activation broadened FXII's physiological role beyond coagulation to the renin-angiotensin system.

    Evidence Cohort genotyping combined with in vitro recombinant pro-renin digestion assay and kallikrein activity assays

    PMID:26969407

    Open questions at the time
    • In vivo validation of FXII–kallikrein–prorenin axis not performed
    • Quantitative contribution of FXII to renin homeostasis versus other activation pathways unclear
    • Single-lab finding without independent replication
  6. 2019 High

    RNAi and shRNA knockdown of hepatic F12 in multiple species demonstrated that reducing circulating FXII prevents thrombosis without impairing hemostasis, answering whether FXII is a safe antithrombotic target.

    Evidence GalNAc-siRNA (ALN-F12) in mice, rats, and non-human primates; AAV-shRNA in mouse FeCl3 arterial and electrolytic venous thrombosis models with tail-bleeding controls

    PMID:30463937 PMID:30959404 PMID:32896690

    Open questions at the time
    • Efficacy and safety of FXII knockdown in humans not yet established
    • Long-term consequences of sustained FXII depletion (infection susceptibility, wound healing) not assessed
  7. 2021 High

    Biochemical reconstitution of the HAE-FXII variant FXII309Lys revealed the molecular mechanism: loss of an O-glycan increases sensitivity to thrombin priming cleavage, generating a 37-kDa heavy chain that is then fully activated by kallikrein to βFXIIa, linking hypercoagulable states to angioedema.

    Evidence Recombinant wild-type and variant FXII expressed in S2 cells, Western blot, amidolytic assays, neuraminidase treatment, fibrin generation assay

    PMID:33725261

    Open questions at the time
    • Structural basis for how glycan loss exposes the thrombin cleavage site not resolved
    • Whether pharmacological glycosylation rescue could treat HAE-FXII not tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • The structural basis for FXII surface activation, the full repertoire of physiological FXII activators in vivo, and whether FXII inhibition/knockdown is safe and effective as an antithrombotic or anti-angioedema therapy in humans remain open questions.
  • No crystal or cryo-EM structure of full-length FXII in active or zymogen form
  • In vivo FXII activating surfaces in physiology versus pathology not systematically defined
  • Human clinical trial data for FXII-targeted therapeutics not available in this literature

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140096 catalytic activity, acting on a protein 6
Localization
GO:0005576 extracellular region 4
Pathway
R-HSA-109582 Hemostasis 5 R-HSA-168256 Immune System 3
Partners
F2KLKB1KNG1SERPING1

Evidence

Reading pass · 13 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1977 Prothrombin activation in blood and plasma proceeds primarily through removal of the combined activation fragment F1-2 (representing the amino-terminal half of prothrombin) as a single peptide, accounting for at least 90% of prothrombin conversion; the separate F1 fragment represents a minor pathway (<10%). Rapid purification (DEAE-cellulose, hydroxyapatite chromatography), isotope dilution, amino acid composition, antigenic characterization, thrombin hydrolysis The Journal of clinical investigation High 410831
2015 Specific gain-of-function mutations in the F12 gene (e.g., p.Thr309Lys/p.Thr328Lys) cause hereditary angioedema with normal C1-inhibitor (HAE-FXII) through increased FXII activation leading to excess bradykinin generation; estrogen exposure is a key modifier of clinical penetrance. Genetic analysis, family studies, clinical phenotyping, laboratory complement/coagulation assays Allergy High 23994767 25134986 25952149
2021 The HAE-FXII variant FXII309Lys (c.1032C>A) results in a glycosylation-deficient FXII with increased sensitivity to fluid-phase activation; thrombin cleaves FXII309Lys to release a 37-kDa heavy chain fragment, priming it for subsequent kallikrein cleavage and generation of active βFXIIa, linking hypercoagulable states to angioedema episodes. Western blot, amidolytic assay, recombinant protein expression in S2 insect cells, neuraminidase treatment, fibrin generation assay, plasma activation studies Clinical reviews in allergy & immunology High 33725261
2018 RNAi-mediated knockdown of liver-derived F12 mRNA (ALN-F12, GalNAc-siRNA) potently reduces plasma FXII levels in mice, rats, and non-human primates, and dose-dependently reduces vascular permeability in bradykinin-driven mouse models; ex vivo assays confirmed FXII-dependent HK cleavage and bradykinin generation. In vivo siRNA knockdown, ELISA for plasma FXII, vascular permeability models (Miles assay), ex vivo HK cleavage assay RNA (New York, N.Y.) High 30463937
2020 AAV-delivered shRNA targeting liver F12 mRNA reduces plasma FXII protein and provides dose-dependent protection against arterial and venous thrombosis in mice without affecting hemostasis (no increase in bleeding time or blood loss), establishing FXII's role in pathological but not hemostatic coagulation. AAV-shRNA knockdown in mice, ferric chloride arterial thrombosis model, electrolytic venous thrombosis model, saphenous vein and tail-transection bleeding models Thrombosis research High 32896690
2019 AAV-mediated shRNA targeting F12 effectively reduces FXII expression and inhibits thrombus formation in multiple mouse thrombosis models without causing hemorrhage, confirming FXII's role in thrombosis but not normal hemostasis. AAV-shRNA in vivo knockdown, coagulation function assays, tail bleeding, pathological sections Molecular therapy. Nucleic acids Medium 30959404
2004 The F12 46C→T polymorphism (rs1801020) in exon 1 causes reduced plasma FXII levels in a gene-dosage manner; homozygosity for the T allele (T/T genotype) is an independent genetic risk factor for venous thrombosis (adjusted OR 4.82) and ischemic stroke (adjusted OR 4.1). Family-based linkage scan (GAIT Project), case-control genotyping, plasma FXII activity measurement Thrombosis and haemostasis High 15116249 15232129 15257949
2009 Bayesian quantitative trait nucleotide analysis of F12 re-sequencing identified that the rs1801020 (46C>T) variant alone accounts for the F12 QTL effect on plasma FXII levels; the T allele appeared ~100,000 years ago and spread by genetic drift. Re-sequencing of F12 in 40 individuals, genotyping of 26 SNPs in 398 family members (GAIT Project), measured genotype association analysis, Bayesian QTN analysis Human molecular genetics High 19933701
2010 The F12 -4C>T polymorphism (rs1801020) significantly prolongs aPTT and reduces thrombin generation (lower ETP, thrombin peak) in both patients and healthy controls in a gene-dosage manner; carriers also have significantly lower FIXc and FVIIc levels, demonstrating the downstream impact of FXII levels on the intrinsic coagulation pathway. Genotyping, plasma FXII activity, aPTT assay, calibrated automated thrombinography (CAT), factor assays in 566 participants Blood coagulation & fibrinolysis High 20814302
2016 Polymorphisms at F12 (rs1801020) and KLKB1 (rs3733402) are associated with reduced active plasma renin; in vitro assays confirmed that kallikrein digests pro-renin to generate active renin, and active renin cleaves angiotensinogen to angiotensin-I; the F12 variant reduces FXII's ability to activate prekallikrein to kallikrein, thereby reducing renin activation. Cohort genotyping, in vitro recombinant pro-renin digestion assay, synthetic substrate assay for renin activity, co-localization by immunohistochemistry BMC medical genetics Medium 26969407
2019 Factor XII deficiency in domestic cats is caused by two high-frequency F12 mutations (exon 13 missense c.1631G>C and exon 11 deletion c.1321delC); residual FXII:C correlates with mutation number and type; deficient cats show no abnormal bleeding, consistent with FXII's dispensability for hemostasis. Retrospective phenotypic review, coagulation assays, F12 gene sequencing of 26 FXII-deficient cats Gene Medium 31022435
2020 Missense variants p.Glu502Lys and p.Gly542Ser in the F12 gene reduce FXII secretion and activity: transfection of HEK293T cells with expression plasmids encoding these variants showed reduced FXII:C and FXII:Ag in supernatant and cell lysate compared to wild-type, demonstrating that these mutations impair FXII synthesis and secretion. Site-directed mutagenesis, transient transfection in 293T cells, FXII:C clotting assay, FXII:Ag ELISA, Western blot Chinese journal of medical genetics Medium 32335876
2023 An evolutionary analysis established that F12 (encoding a serine protease with defense and hemostatic roles) emerged ~425 Mya in vertebrates, was secondarily lost in cetaceans during their transition to aquatic lifestyle, and has acquired new roles in pathological activation by blood-contacting devices and nanoparticles. Comparative genomics, phylogenetic analysis BioEssays Low 37750435

Source papers

Stage 0 corpus · 78 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1990 Purification and characterization of canine myocardial cytosolic phospholipase A2. A calcium-independent phospholipase with absolute f1-2 regiospecificity for diradyl glycerophospholipids. The Journal of biological chemistry 228 2355013
2012 Explicitly correlated Wn theory: W1-F12 and W2-F12. The Journal of chemical physics 158 22462842
1977 Generation of the combined prothrombin activation peptide (F1-2) during the clotting of blood and plasma. The Journal of clinical investigation 124 410831
2015 Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations. Allergy 106 25952149
2016 Perturbative triples correction for local pair natural orbital based explicitly correlated CCSD(F12*) using Laplace transformation techniques. The Journal of chemical physics 72 28010093
1990 Fibronectin and proteoglycan synthesis in long term cultures of cartilage explants in Ham's F12 supplemented with insulin and calcium: effects of the addition of TGF-beta. Archives of biochemistry and biophysics 68 2241173
2016 Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII). Allergy 66 27905115
2013 Novel duplication in the F12 gene in a patient with recurrent angioedema. Clinical immunology (Orlando, Fla.) 63 23994767
2004 Association after linkage analysis indicates that homozygosity for the 46C-->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis. Thrombosis and haemostasis 63 15116249
2017 Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families. The journal of allergy and clinical immunology. In practice 51 29128335
2019 Paternal benzo[a]pyrene exposure alters the sperm DNA methylation levels of imprinting genes in F0 generation mice and their unexposed F1-2 male offspring. Chemosphere 46 31059956
2004 Homozygosity of the T allele of the 46 C->T polymorphism in the F12 gene is a risk factor for ischemic stroke in the Spanish population. Stroke 40 15232129
2010 Vaccinia protein F12 has structural similarity to kinesin light chain and contains a motor binding motif required for virion export. PLoS pathogens 39 20195521
2009 An E2-F12 complex is required for intracellular enveloped virus morphogenesis during vaccinia infection. Cellular microbiology 39 19207726
2018 An investigational RNAi therapeutic targeting Factor XII (ALN-F12) for the treatment of hereditary angioedema. RNA (New York, N.Y.) 34 30463937
2018 Small-molecule AgrA inhibitors F12 and F19 act as antivirulence agents against Gram-positive pathogens. Scientific reports 33 30275455
2015 Characterization of patients with angioedema without wheals: the importance of F12 gene screening. Clinical immunology (Orlando, Fla.) 31 25744496
2014 Hereditary angioedema with F12 mutation: factors modifying the clinical phenotype. Allergy 28 25134986
2000 cis expression of the F12 human immunodeficiency virus (HIV) Nef allele transforms the highly productive NL4-3 HIV type 1 to a replication-defective strain: involvement of both Env gp41 and CD4 intracytoplasmic tails. Journal of virology 28 10590138
2001 Nef from human immunodeficiency virus type 1(F12) inhibits viral production and infectivity. Journal of virology 27 11413327
2010 Obstetrical Complications and Outcome in Two Families with Hereditary Angioedema due to Mutation in the F12 Gene. Obstetrics and gynecology international 25 20490261
2009 Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels. Human molecular genetics 25 19933701
2008 Vaccinia virus protein F12 associates with intracellular enveloped virions through an interaction with A36. Journal of virology 25 19052096
2001 Genetic and functional analysis of the human immunodeficiency virus (HIV) type 1-inhibiting F12-HIVnef allele. The Journal of general virology 25 11602785
2017 EndoC-βH1 cells display increased sensitivity to sodium palmitate when cultured in DMEM/F12 medium. Islets 24 28277987
2003 v-src oncogene-specific carboxy-terminal peptide is immunoprotective against Rous sarcoma growth in chickens with MHC class I allele B-F12. Vaccine 24 14585677
2016 Hereditary angioedema with F12 mutation: Clinical features and enzyme polymorphisms in 9 Southwestern Spanish families. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 20 27788882
2015 Vaccinia virus protein complex F12/E2 interacts with kinesin light chain isoform 2 to engage the kinesin-1 motor complex. PLoS pathogens 20 25760349
2013 Supplemented αMEM/F12-based medium enables the survival and growth of primary ovarian follicles encapsulated in alginate hydrogels. Biotechnology and bioengineering 20 23801027
2013 Antihistamine-resistant angioedema in women with negative family history: estrogens and F12 gene mutations. The American journal of medicine 20 24262729
2007 Homozygosity for the C46T polymorphism of the F12 gene is a risk factor for venous thrombosis during the first pregnancy. Journal of thrombosis and haemostasis : JTH 20 17408404
2004 Transcriptome of 3D7 and its gametocyte-less derivative F12 Plasmodium falciparum clones during erythrocytic development using a gene-specific microarray assigned to gene regulation, cell cycle and transcription factors. Gene 20 15474309
2016 Polymorphisms at the F12 and KLKB1 loci have significant trait association with activation of the renin-angiotensin system. BMC medical genetics 18 26969407
2005 T Lymphocytes transduced with a lentiviral vector expressing F12-Vif are protected from HIV-1 infection in an APOBEC3G-independent manner. Molecular therapy : the journal of the American Society of Gene Therapy 17 16039909
1984 Improved survival and differentiation of newborn and adult mouse neurons in F12 defined medium by fibronectin. Brain research 17 6697235
2020 Knockdown of liver-derived factor XII by GalNAc-siRNA ALN-F12 prevents thrombosis in mice without impacting hemostatic function. Thrombosis research 16 32896690
2014 Interaction Energy of Large Molecules from Restrained Denominator MP2-F12. Journal of chemical theory and computation 16 26584372
2004 Homozygosity of the T allele of the 46 C-->T polymorphism in the F12 gene is a risk factor for acute coronary artery disease in the Spanish population. Haematologica 16 15257949
1983 Isolation and characterization of F12 adhesive fimbrial antigen from uropathogenic Escherichia coli strains. Infection and immunity 16 6339412
2009 The F12-Vif derivative Chim3 inhibits HIV-1 replication in CD4+ T lymphocytes and CD34+-derived macrophages by blocking HIV-1 DNA integration. Blood 15 19211937
2009 The effect of nine common polymorphisms in coagulation factor genes (F2, F5, F7, F12 and F13 ) on the effectiveness of statins: the GenHAT study. Pharmacogenetics and genomics 14 19415820
1991 Immunohistochemical detection of two small cell lung carcinoma-associated antigens defined by MAbs F12 and 123C3 in bronchoscopy biopsy tissues. APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 14 1654059
2014 Fluorescence resonance energy transfer-based real-time polymerase chain reaction method without DNA extraction for the genotyping of F5, F2, F12, MTHFR, and HFE. Journal of blood medicine 13 25028568
2019 Factor XII deficiency is common in domestic cats and associated with two high frequency F12 mutations. Gene 9 31022435
2017 Vaccinia virus egress mediated by virus protein A36 is reliant on the F12 protein. The Journal of general virology 9 28631604
2010 The Mediterranean Sea as a barrier to gene flow: evidence from variation in and around the F7 and F12 genomic regions. BMC evolutionary biology 9 20346176
2009 Characterization of the epitope region of F1-2 and F1-5, two monoclonal antibodies to Botulinum neurotoxin type A. Hybridoma (2005) 9 19857112
2012 [Association study of polymorphic markers of F12, PON1, PON2, NOS2, PDE4D, HIF1a, GPIba, CYP11B2 genes with ischemic stroke in Russian patients]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 8 22677666
2010 Influence of the F12 -4 C>T polymorphism on hemostatic tests. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 8 20814302
2016 Genetic analysis of a hereditary factor XII deficiency pedigree of a consanguineous marriage due to a homozygous F12 gene mutation: Gly341Arg. Hematology (Amsterdam, Netherlands) 6 28007010
2010 Novel deleterious mutation in the F12 gene in a Korean family with severe coagulation factor XII deficiency. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 6 20729721
1992 Nucleotide sequences of the major subunits of F9 and F12 fimbriae of uropathogenic Escherichia coli. Microbial pathogenesis 6 1360613
1990 Growth and characterization of normal human keratinocytes in F12 serum-free medium. Journal of the Formosan Medical Association = Taiwan yi zhi 6 1701827
2014 Chordopoxvirus protein F12 implicated in enveloped virion morphogenesis is an inactivated DNA polymerase. Biology direct 5 25374149
2010 High resolution mapping of trypanosomosis resistance loci Tir2 and Tir3 using F12 advanced intercross lines with major locus Tir1 fixed for the susceptible allele. BMC genomics 5 20569426
2025 Mycochemistry, antioxidant, anticancer activity, and molecular docking of compounds of F12 of ethyl acetate extract of Astraeus asiaticus with BcL2 and Caspase 3. Scientific reports 4 39910111
2009 Rapid triplex asymmetric real-time PCR hybridization probe assay for the joint genotyping of F2, F5 and F12. Clinical biochemistry 4 19422815
1996 The non-producer phenotype of the human immunodeficiency virus type 1 provirus F12/HIV-1 is the result of multiple genetic variations. The Journal of general virology 4 8810997
2024 Photoinactivation of the bacteriophage PhiX174 by UVA radiation and visible light in SM buffer and DMEM-F12. BMC research notes 2 38167092
2021 Thrombin in the Activation of the Fluid Contact Phase in Patients with Hereditary Angioedema Carrying the F12 P.Thr309Lys Variant. Clinical reviews in allergy & immunology 2 33725261
2021 Comparison of Rat Primary Midbrain Neurons Cultured in DMEM/F12 and Neurobasal Mediums. Basic and clinical neuroscience 2 34925717
2018 The prevalence of heterozygous F12 mutations in Chinese population and its relevance to incidents of thrombosis. BMC medical genetics 2 29587641
2025 Case Report: Two children with factor XII deficiency caused by novel F12 compound heterozygous variants. Frontiers in pediatrics 1 40673203
2024 Complete genome sequence of Bacillus pumilus F12-21, a halotolerant bacterium with antibacterial properties isolated from a Big Bone Lick State Park salt spring. Microbiology resource announcements 1 38501782
2024 [Pedigree Analysis of Hereditary Coagulation Factor XII Deficiency Caused by Compound Heterozygous Mutation p.Gly175Cys and p.Gly542Ser of F12 Gene]. Zhongguo shi yan xue ye xue za zhi 1 38926981
2023 [Analysis of F12 gene variants and molecular mechanisms in patients with coagulation factor Ⅻ deficiency]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 36972937
2023 An evolutionary history of F12 gene: Emergence, loss, and vulnerability with the environment as a driver. BioEssays : news and reviews in molecular, cellular and developmental biology 1 37750435
2023 [Analysis of a Chinese pedigree affected with Hereditary coagulation factor Ⅻ deficiency due to compound heterozygous variants of F12 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 37994133
2020 [Identification of compound heterozygous variants of F12 gene in a pedigree affected with inherited coagulation factor XII deficiency]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 32335876
2019 Antithrombotic Effect of shRNA Target F12 Mediated by Adeno-Associated Virus. Molecular therapy. Nucleic acids 1 30959404
2012 Two-stage cultivation of Pseudomonas sp. F12 for the production of enzymes converting DL-2-amino-Δ²-thiazoline-4-carboxylic acid to L-cysteine. Applied biochemistry and biotechnology 1 23054819
2026 Transmission of F12-related hereditary angioedema through a sperm donor. Frontiers in immunology 0 41890722
2023 [Genetic analysis of a Chinese pedigree affected with Congenital coagulation factor XII deficiency due to a c.1A>G start codon variant of F12 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 37102287
2023 [Analysis of a Chinese pedigree affected with Hereditary FⅫ deficiency due to compound heterozygous variants of F12 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 37730224
2023 Analysis of an Inherited FXII Deficiency Pedigree Associated with Double Heterozygous Mutations in the F12 Gene. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 0 37790745
2023 Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report. Journal of medical case reports 0 38057855
2020 [Analysis of a pedigree affected with hereditary coagulation factor XII deficiency due to a homozygous 252delAsn deletion of F12 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 32619258
2016 Papillophlebitis versus paediatric venous thrombosis. A case with 46C/T polymorphism in the F12 coagulation gene. Archivos de la Sociedad Espanola de Oftalmologia 0 27773491