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Pubmed ID :26126547
Publication Date : //

Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo.


P.R4810K of RNF213 (mysterin: rs112735431), which is an AAA(+) ATPase, is the susceptibility polymorphism for moyamoya disease (MMD) in East Asians. However, the role of RNF213 R4810K in the etiology of MMD is unknown.

Authors : Kobayashi Hatasu , Matsuda Yoshiko , Hitomi Toshiaki , Okuda Hiroko , Shioi Hirotomo , Matsuda Tetsuya , Imai Hirohiko , Sone Masakatsu , Taura Daisuke , Harada Kouji H , Habu Toshiyuki , Takagi Yasushi , Miyamoto Susumu , Koizumi Akio ,

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