Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay
复制标题
α-II 血影蛋白显性失活突变导致 West 综合征，伴有严重脑髓鞘形成不足、痉挛性四肢瘫痪和发育迟缓
DOI：
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发表时间：
2010
期刊：
影响因子：
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通讯作者：
OggS
中科院分区：
文献类型：
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作者：
Saitsu H;Tohyama J;Kumada T;Egawa K;Hamada K;Okada I;Mizuguchi T;Osaka H;Miyata R;Furukawa T;Haginoya K;Hoshino H;Goto T;Hachiya Y;Yamagata T;Saitoh S;Nagai T;Nishiyama K;Nishimura A;Miyake N;Komada M;Hayashi K;Hirai S;OgOgS;OggS
