Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay
Year: 2010
Type: article
Authors: 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, Toshiro Nagai, Kiyomi Nishiyama, Akira Nishimura, Noriko Miyake, Masayuki Komada, Kenji Hayashi, Syu-ichi Hirai, Kazuhiro Ogata, Mitsuhiro Kato, Atsuo Fukuda, Naomichi Matsumoto
Institutions: Yokohama City University, Nishi Niigata Chuo National Hospital, Hamamatsu University, Hamamatsu University School of Medicine, Kanagawa Children's Medical Center, Tohoku University, National Center For Child Health and Development, Tokyo Metropolitan Children's Medical Center, Tokyo Metropolitan Neurological Hospital, Jichi Medical University, Hokkaido University, Dokkyo Medical University Saitama Medical Center, Tokyo Institute of Technology, Yamagata University, Yamagata University Hospital
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2016194769