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A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis
C B Grundy1, M Chisholm, V V Kakkar
1Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.
Human Genetics
|August 1, 1992
Abstract:
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.