Condition: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
rs1211098698 in
LOC105373608;PROC gene and
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
PMID 2437584 1987 Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.
PMID 25618265 2015 Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency.
PMID 1347706 1992 Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations.
PMID 8499568 1993 A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.
PMID 1511989 1992 Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.
PMID 1301959 1992 Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.
PMID 8560401 1995 Protein C Osaka 10 with aberrant propeptide processing: loss of anticoagulant activity due to an amino acid substitution in the protein C precursor.
PMID 1868249 1991 The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.
PMID 8398832 1993 Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket.
PMID 9798967 1998 Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.
PMID 8829639 1996 Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.
PMID 8292730 1993 Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.
PMID 2602169 1989 Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis.
PMID 7865674 1994 Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.
PMID 25748729 2015 Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations.
PMID 7792728 1995 Six different point mutations in seven Danish families with symptomatic protein C deficiency.
PMID 7482420 1995 Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH.
PMID 24162787 2014 Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.
PMID 22545135 2012 Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.
PMID 23332921 2013 Common genetic risk factors for venous thrombosis in the Chinese population.
PMID 24028705 2014 Deficiency of antithrombin and protein C gene in 202 Chinese venous thromboembolism patients.
PMID 22817391 2012 PROC c.574_576del polymorphism: a common genetic risk factor for venous thrombosis in the Chinese population.
PMID 15978566 2005 Protein S and protein C gene mutations in Japanese deep vein thrombosis patients.
PMID 9840027 1998 Genetic analysis of protein C deficiency in nineteen Japanese families: five recurrent defects can explain half of the deficiencies.
PMID 19822351 2010 A homozygous protein C deficiency (Lys 192 del) who developed venous thrombosis for the first time at adulthood.
rs1553424043 in
MIR4783;PROC gene and
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
PMID 1868249 1991 The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.
PMID 17152060 2007 Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.
rs121918148 in
PROC gene and
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
PMID 8560401 1995 Protein C Osaka 10 with aberrant propeptide processing: loss of anticoagulant activity due to an amino acid substitution in the protein C precursor.
PMID 9798967 1998 Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.
PMID 2437584 1987 Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.
PMID 8829639 1996 Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.
PMID 1511989 1992 Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.
PMID 1301959 1992 Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.
PMID 1347706 1992 Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations.
PMID 7865674 1994 Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.
PMID 8292730 1993 Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.
PMID 1868249 1991 The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.
PMID 2602169 1989 Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis.
PMID 8499568 1993 A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.
PMID 8398832 1993 Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket.
PMID 25748729 2015 Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations.
PMID 7792728 1995 Six different point mutations in seven Danish families with symptomatic protein C deficiency.
PMID 25618265 2015 Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency.
PMID 7482420 1995 Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH.
PMID 16867987 2006 Multifunctional specificity of the protein C/activated protein C Gla domain.
PMID 17152060 2007 Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.
PMID 8477066 1993 An abnormal protein C (protein C Yonago) with an amino acid substitution of Gly for Arg-15 caused by a single base mutation of C to G in codon 57 (CGG-->GGG). Deteriorated calcium-dependent conformation of the gamma-carboxyglutamic acid domain relevant to a thrombotic tendency.
PMID 1498334 1992 Role of individual gamma-carboxyglutamic acid residues of activated human protein C in defining its in vitro anticoagulant activity.
PMID 8505327 1993 The contributions of individual gamma-carboxyglutamic acid residues in the calcium-dependent binding of recombinant human protein C to acidic phospholipid vesicles.
PMID 1464619 1992 Influence of specific gamma-carboxyglutamic acid residues on the integrity of the calcium-dependent conformation of human protein C.
PMID 1771629 1991 A new hereditary abnormal protein C (protein C Yonago) with a dysfunctional Gla-domain.
PMID 14642106 2003 [Type I hereditary protein C deficiency due to C5498T mutation in protein C gene].
PMID 8446940 1993 Protein C deficiency: a database of mutations. For the Protein C & S Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.
rs121918142 in
PROC;LOC105373608 gene and
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
PMID 1511989 1992 Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.
PMID 1347706 1992 Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations.
PMID 1301959 1992 Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.
PMID 2437584 1987 Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.
PMID 8560401 1995 Protein C Osaka 10 with aberrant propeptide processing: loss of anticoagulant activity due to an amino acid substitution in the protein C precursor.
PMID 25748729 2015 Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations.
PMID 8829639 1996 Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.
PMID 9798967 1998 Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.
PMID 8292730 1993 Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.
PMID 7865674 1994 Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.
PMID 1868249 1991 The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.
PMID 2602169 1989 Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis.
PMID 25618265 2015 Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency.
PMID 8499568 1993 A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.
PMID 8398832 1993 Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket.
PMID 7792728 1995 Six different point mutations in seven Danish families with symptomatic protein C deficiency.
PMID 1347608 1992 Homozygous protein C deficiency with late onset and recurrent coumarin-induced skin necrosis.
PMID 1593215 1992 Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C.
PMID 8807339 1996 Recurrence of the PROC gene mutation R178Q: independent origins in Spanish protein C deficiency patients.
PMID 7605880 1995 Three novel mutations in the protein C (PROC) gene causing venous thrombosis.
PMID 8499565 1993 Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency.
PMID 10942114 2000 Molecular genetic analysis of severe protein C deficiency.
PMID 17635713 2007 Activated protein C.
PMID 28468828 2017 Thrombin activation of protein C requires prior processing by a liver proprotein convertase.
PMID 7482420 1995 Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH.
PMID 27172833 2016 Activation-resistant homozygous protein C R229W mutation causing familial perinatal intracranial hemorrhage and delayed onset of thrombosis.
PMID 18954896 2009 Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.
PMID 28111891 2017 The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.
rs370813536 in
PROC;MIR4783 gene and
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
PMID 25748729 2015 Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations.
PMID 2602169 1989 Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis.
PMID 7792728 1995 Six different point mutations in seven Danish families with symptomatic protein C deficiency.
PMID 8292730 1993 Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.
PMID 8560401 1995 Protein C Osaka 10 with aberrant propeptide processing: loss of anticoagulant activity due to an amino acid substitution in the protein C precursor.
PMID 8499568 1993 A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.
PMID 2437584 1987 Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.
PMID 8398832 1993 Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket.
PMID 25618265 2015 Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency.
PMID 7865674 1994 Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.
PMID 8829639 1996 Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.
PMID 9798967 1998 Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.
PMID 1301959 1992 Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.
PMID 1511989 1992 Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.
PMID 1868249 1991 The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.
PMID 1347706 1992 Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations.