Literature DB >> 1511989

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

C B Grundy1, S Schulman, L Tengborn, V V Kakkar, D N Cooper.   

Abstract

Non-identical missense mutations were identified at Arg 178 in the protein C genes of two patients with heterozygous type 1 protein C deficiency and recurrent venous thrombosis.

Entities:  

Mesh：

Substances：

Year:  1992        PMID： 1511989     DOI： 10.1007/bf00221964

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


  5 in total

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

Authors:  C B Grundy; M Chisholm; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  The CpG dinucleotide and human genetic disease.

Authors:  D N Cooper; H Youssoufian
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

3.  Cloning and sequencing of liver cDNA coding for bovine protein C.

Authors:  G L Long; R M Belagaje; R T MacGillivray
Journal:  Proc Natl Acad Sci U S A       Date:  1984-09       Impact factor: 11.205

4.  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

5.  The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.

Authors:  P H Reitsma; S R Poort; C F Allaart; E Briët; R M Bertina
Journal:  Blood       Date:  1991-08-15       Impact factor: 22.113
  5 in total
  1 in total

1.  Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.

Authors:  Liang Tang; Tao Guo; Rui Yang; Heng Mei; Huafang Wang; Xuan Lu; Jianming Yu; Qingyun Wang; Yu Hu
Journal:  PLoS One       Date:  2012-04-24       Impact factor: 3.240
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.