Literature DB >> 8462980

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

D S Millar1, C B Grundy, P Bignell, D C Mitchell, D Corden, P Woods, V V Kakkar, D N Cooper.   

Abstract

A novel heterozygous TGG-->TAG (Trp-29-->Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis.

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Year:  1993        PMID： 8462980     DOI： 10.1007/bf00222726

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


  2 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

Review 2.  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.

Authors:  P H Reitsma; S R Poort; F Bernardi; S Gandrille; G L Long; N Sala; D N Cooper
Journal:  Thromb Haemost       Date:  1993-01-11       Impact factor: 5.249
  2 in total

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