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A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->term) causing recurrent venous thrombosis
D S Millar1, C B Grundy, P Bignell
1Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.
Human Genetics
|March 1, 1993
Abstract:
A novel heterozygous TGG-->TAG (Trp-29-->Term) substitution was detected in three members of a family with inherited type 1 protein C deficiency and recurrent venous thrombosis.