Your browser version may not work well with NCBI's Web applications. More information here...
1: Blood Coagul Fibrinolysis. 1993 Apr;4(2):345-7.Links

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

Millar DS, Grundy CB, Bignell P, Moffat EH, Martin R, Kakkar VV, Cooper DN.

Charter Molecular Genetics Laboratory, Chelsea, London, UK.

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]