Apparent synonymous mutation F9 c.87A > G causes secretion failure by in-frame mutation with aberrant splicing

Hemophilia B is an X-linked recessive bleeding disorder caused by coagulation factor IX (FIX) gene (F9) mutations. Several F9 synonymous mutations have been known to cause hemophilia B; however, the deleterious mechanisms underlying the development of hemophilia B have not been completely understood. To elucidate the molecular pathogenesis causing hemophilia B, we investigated the synonymous F9 mutation: c.87A>G, p.(Thr29=).

Source: Thrombosis Research - April 30, 2019 Category: Hematology Authors: Koya Odaira, Shogo Tamura, Nobuaki Suzuki, Misaki Kakihara, Yuna Hattori, Mahiru Tokoro, Sachiko Suzuki, Akira Takagi, Akira Katsumi, Fumihiko Hayakawa, Shuichi Okamoto, Atsuo Suzuki, Takeshi Kanematsu, Tadashi Matsushita, Tetsuhito Kojima Tags: Full Length Article Source Type: research