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Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis
C B Grundy1, S Schulman, L Tengborn
1Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.
Human Genetics
|August 1, 1992
Abstract:
Non-identical missense mutations were identified at Arg 178 in the protein C genes of two patients with heterozygous type 1 protein C deficiency and recurrent venous thrombosis.