A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.
Grundy C.B., Chisholm M., Kakkar V.V., Cooper D.N.
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.
Hum. Genet. 89:683-684(1992) [PubMed] [Europe PMC]