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

D S Millar; C B Grundy; P Bignell; D C Mitchell; D Corden; P Woods; V V Kakkar; D N Cooper

doi:10.1007/BF00222726

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

Hum Genet. 1993 Mar;91(2):196. doi: 10.1007/BF00222726.

Authors

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

Affiliation

¹ Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.

PMID: 8462980
DOI: 10.1007/BF00222726

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Female
Genes, Dominant
Humans
Male
Pedigree
Point Mutation*
Protein C / genetics*
Protein C Deficiency*
Recurrence
Thrombophlebitis / genetics*

Substances

Protein C