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Hum Genet. 1993 Mar;91(2):196.

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

Author information

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

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.

PMID:
8462980
[PubMed - indexed for MEDLINE]
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