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A Novel Cycs Missense Mutation in the Α-Helix of the Cycs C-Terminal Domain Causes Non-Syndromic Thrombocytopenia

Yuri Uchiyama,Kunio Yanagisawa,Shinji Kunishima,Masaaki Shiina,Yoshiyuki Ogawa,Mitsuko Nakashima,Junko Hirato,Eri Imagawa,Atsushi Fujita,Kohei Hamanaka,Satoko Miyatake,Satomi Mitsuhashi,Atsushi Takata,Noriko Miyake,Kazuhiro Ogata,Hiroshi Handa,Naomichi Matsumoto,Takeshi Mizuguchi

CLINICAL GENETICS（2018）

Cited 21|Views32
Key words
CYCS,cytochrome c,hemophilia A,loss of function mutation,mitochondria,thrombocytopenia
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