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Article

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

Human genetics - 1 Aug 1992

Grundy C B, Chisholm M, Kakkar V V, Cooper D N

Abstract excerpt

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.

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Identifiers

PMID: 1511988
DOI: 10.1007/BF00221963

Genes

PROC

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Source receipt: pubmed, retrieved 7 Sept 2026.

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