Article
Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.
PloS one - 1 Jan 2011
Liu Wanyang, Morito Daisuke, Takashima Seiji, Mineharu Yohei, Kobayashi Hatasu, Hitomi Toshiaki, Hashikata Hirokuni, Matsuura Norio, Yamazaki Satoru, Toyoda Atsushi, Kikuta Ken-ichiro, Takagi Yasushi, Harada Kouji H, Fujiyama Asao, Herzig Roman, Krischek Boris, Zou Liping, Kim Jeong Eun, Kitakaze Masafumi, Miyamoto Susumu, Nagata Kazuhiro, Hashimoto Nobuo, Koizumi Akio
Abstract excerpt
BACKGROUND: Moyamoya disease is an idiopathic vascular disorder of intracranial arteries. Its susceptibility locus has been mapped to 17q25.3 in Japanese families, but the susceptibility gene is unknown. METHODOLOGY/PRINCIPAL FINDINGS: Genome-wide linkage analysis in eight three-generation families with moyamoya disease revealed linkage to 17q25.3 (P<10(-4)). Fine mapping demonstrated a 1.5-Mb disease locus...
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