A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis |
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| Authors: | Catherine B Grundy Morag Chisholm Vijay V Kakkar David N Cooper |
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| Institution: | (1) Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Manresa Road, SW3 6LR Chelsea, London, UK;(2) Department of Haematology, Southampton General Hospital, Southampton, UK |
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| Abstract: | Summary 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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