Literature DB >> 1511988

A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.

C B Grundy1, M Chisholm, V V Kakkar, D N Cooper.   

Abstract

A novel homozygous CCC----CTC (Pro 247----Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the condition appears to be inherited as an incompletely recessive trait in this family.

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Year:  1992        PMID： 1511988     DOI： 10.1007/bf00221963

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  4 in total

Review 1.  Evolution of the proteases of blood coagulation and fibrinolysis by assembly from modules.

Authors:  L Patthy
Journal:  Cell       Date:  1985-07       Impact factor: 41.582

2.  Characterization of the complementary deoxyribonucleic acid and gene coding for human prothrombin.

Authors:  S J Degen; R T MacGillivray; E W Davie
Journal:  Biochemistry       Date:  1983-04-26       Impact factor: 3.162

3.  Characterization of a cDNA coding for human protein C.

Authors:  D Foster; E W Davie
Journal:  Proc Natl Acad Sci U S A       Date:  1984-08       Impact factor: 11.205

4.  Recurrent deletion in the human antithrombin III gene.

Authors:  C B Grundy; F Thomas; D S Millar; M Krawczak; E Melissari; V Lindo; E Moffat; V V Kakkar; D N Cooper
Journal:  Blood       Date:  1991-08-15       Impact factor: 22.113
  4 in total
  5 in total

1.  Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.

Authors:  C B Grundy; S Schulman; L Tengborn; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->term) causing recurrent venous thrombosis.

Authors:  D S Millar; C B Grundy; P Bignell; D C Mitchell; D Corden; P Woods; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

3.  A novel missense mutation (Thr176-->Ile) at the putative hinge of the neo N-terminus of activated protein C.

Authors:  P J Hallam; A I Wacey; P M Mannucci; C Legnani; W Kühnau; M Krawczak; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

4.  Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.

Authors:  Petr Vrtel; Ludek Slavik; Radek Vodicka; Julia Stellmachova; Martin Prochazka; Jana Prochazkova; Jana Ulehlova; Peter Rohon; Tomas Simurda; Jan Stasko; Ivana Martinkova; Radek Vrtel
Journal:  Diagnostics (Basel)       Date:  2022-04-23

5.  Burden of rare exome sequence variants in PROC gene is associated with venous thromboembolism: a population-based study.

Authors:  Weihong Tang; Mary Rachel Stimson; Saonli Basu; Susan R Heckbert; Mary Cushman; James S Pankow; Aaron R Folsom; Nathan Pankratz
Journal:  J Thromb Haemost       Date:  2019-12-06       Impact factor: 5.824
  5 in total

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