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Blood Coagul Fibrinolysis. 1993 Apr;4(2):345-7.

A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.

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  • 1Charter Molecular Genetics Laboratory, Chelsea, London, UK.

Abstract

A heterozygous CGG-->TGG (Arg 15-->Trp) substitution was detected in a family with inherited type II protein C deficiency and recurrent venous thrombosis. The mutation, which co-segregates with the deficiency state, occurs in a conserved pentapeptide within the gamma-carboxyglutamic acid (Gla) domain of the protein.

PMID:
8499568
[PubMed - indexed for MEDLINE]
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