Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy
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概要
- 論文の詳細を見る
- Nature Publishing Groupの論文
- 2011-08-01
著者
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Yamamoto Toshiyuki
Tokyo Women's Medical University Institute For Integrated Medical Sciences
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Imai Katsumi
National Epilepsy Center Shizuoka Institute Of Epilepsy And Neurological Disorders
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SHIMOJIMA Keiko
Tokyo Women's Medical University Institute for Integrated Medical Sciences
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SUGAWARA Midori
Tokyo Women's Medical University Institute for Integrated Medical Sciences
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SHICHIJI Minobu
Tokyo Women's Medical University Institute for Integrated Medical Sciences
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MUKAIDA Souichi
National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders
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TAKAYAMA Rumiko
National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders
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Sugawara Midori
Tokyo Women's Medical University Institute For Integrated Medical Sciences
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Shichiji Minobu
Tokyo Women's Medical University Institute For Integrated Medical Sciences
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Mukaida Souichi
National Epilepsy Center Shizuoka Institute Of Epilepsy And Neurological Disorders
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Shimojima Keiko
Tokyo Women's Medical University Institute For Integrated Medical Sciences
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Takayama Rumiko
National Epilepsy Center Shizuoka Institute Of Epilepsy And Neurological Disorders
関連論文
- SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome
- Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy
- Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication
- Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis
- Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination
- Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia