Article
Protein C deficiency in a family with thromboembolism and identified gene mutations.
Internal medicine (Tokyo, Japan) - 1 Jan 2007
Hoshi Sakuo, Hijikata Minako, Togashi Yuuki, Aoyagi Tetsuji, Kono Chiyoko, Yamada Yoshihito, Amano Hiroko, Keicho Naoto, Yamaguchi Tetsuo
Abstract excerpt
Protein C is the central component of the major anti-thrombotic regulatory system, and individuals with hereditary protein C deficiency tend to have an increased risk of thromboembolism. During the last several years, mutations causing protein C deficiency have been identified. In the present study, we report familial cases with three nucleotide substitutions: One is a missense mutation Arg169Trp, which was...
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