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    Hum Genet. 1992 Aug;89(6):683-4.

    A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.

    Grundy CB, Chisholm M, Kakkar VV, Cooper DN.

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

    A novel homozygous CCC----CTC (Pro 247----Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the condition appears to be inherited as an incompletely recessive trait in this family.

    PMID: 1511988 [PubMed - indexed for MEDLINE]

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