重度発達遅滞,てんかん,進行性小脳・大脳萎縮,髄鞘化遅延を呈したSPTAN1変異の1症例

KUMAGAI YUJI; KOICHIHARA REIKO; HIRATA YUKO; OBA ATSUKO; KIKUCHI KENJIRO; TANAKA MANABU; MINAMITANI MOTOYUKI; HAMANO SHIN'ICHIRO; HAMANO SHIN'ICHIRO; KATO MITSUHIRO

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J-GLOBAL ID：201502211218909699 Reference number：15A1011056

重度発達遅滞,てんかん,進行性小脳・大脳萎縮,髄鞘化遅延を呈したSPTAN1変異の1症例

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Material：
Volume： 47 Issue： 5 Page： 377 Publication year： Sep. 01, 2015
JST Material Number： S0502B ISSN： 0029-0831 Document type： Article
Article type：会議録記事 Country of issue： Japan (JPN) Language： JAPANESE (JA)

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Nervous system diseases , Mental disorders , Diseases specific to children , Molecular genetics in general

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