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

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...

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