Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay
α-II 血影蛋白的显性负性突变会导致韦斯特综合征,其特征为严重的脑髓鞘形成不足、痉挛性四肢瘫痪和发育迟缓。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2010.04.013
Saitsu, Hirotomo; Tohyama, Jun; Kumada, Tatsuro; Egawa, Kiyoshi; Hamada, Keisuke; Okada, Ippei; Mizuguchi, Takeshi; Osaka, Hitoshi; Miyata, Rie; Furukawa, Tomonori; Haginoya, Kazuhiro; Hoshino, Hideki; Goto, Tomohide; Hachiya, Yasuo; Yamagata, Takanori; Saitoh, Shinji; Nagai, Toshiro; Nishiyama, Kiyomi; Nishimura, Akira; Miyake, Noriko; Komada, Masayuki; Hayashi, Kenji; Hirai, Syu-Ichi; Ogata, Kazuhiro; Kato, Mitsuhiro; Fukuda, Atsuo; Matsumoto, Naomichi