Article
ACTN1 mutations cause congenital macrothrombocytopenia.
American journal of human genetics - 7 Mar 2013
Kunishima Shinji, Okuno Yusuke, Yoshida Kenichi, Shiraishi Yuichi, Sanada Masashi, Muramatsu Hideki, Chiba Kenichi, Tanaka Hiroko, Miyazaki Koji, Sakai Michio, Ohtake Masatoshi, Kobayashi Ryoji, Iguchi Akihiro, Niimi Gen, Otsu Makoto, Takahashi Yoshiyuki, Miyano Satoru, Saito Hidehiko, Kojima Seiji, Ogawa Seishi
Abstract excerpt
Congenital macrothrombocytopenia (CMTP) is a heterogeneous group of rare platelet disorders characterized by a congenital reduction of platelet counts and abnormally large platelets, for which CMTP-causing mutations are only found in approximately half the cases. We herein performed whole-exome sequencing and targeted Sanger sequencing to identify mutations that cause CMTP, in which a dominant mode of...
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