Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay


Hirotomo Saitsu,Jun Tohyama,Tatsuro Kumada,Kiyoshi Egawa,Keisuke Hamada,Ippei Okada,Takeshi Mizuguchi,Hitoshi Osaka,Rie Miyata,Tomonori Furukawa,Kazuhiro Haginoya,Hideki Hoshino,Tomohide Goto,Yasuo Hachiya,Takanori Yamagata,Shinji Saitoh, et al.


The American Journal of Human Genetics




11 June 2010

Copyright © 2010, Elsevier

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