Article
Gene analysis of six cases of congenital protein S deficiency and functional analysis of protein S mutations (A139V, C449F, R451Q, C475F, A525V and D599TfsTer13).
Thrombosis research - 1 Mar 2017
Taniguchi Fumina, Morishita Eriko, Sekiya Akiko, Nomoto Haruka, Katsu Shiori, Kaneko Shounosuke, Asakura Hidesaku, Ohtake Shigeki
Abstract excerpt
Congenital deficiency of protein S (PS), an anticoagulant factor, leads to venous thrombosis, with onset predominantly beginning in adolescence. In the present study, gene analysis of six unrelated Japanese families diagnosed with congenital PS deficiency identified five missense mutations in the PROS1 gene - c.757C>T (Ala139Val; A139V), c.1346 G>T (Cys449Phe; C449F), c.1352G>A (Arg451Gln; R451Q), c.1424G>T...
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