NEFL遺伝子のPro22Ser(c.64C>T)ヘテロ接合体変異を認めたCharcot-Marie-Tooth病の17歳男性例

TAKEHISA YASUSHI; KUSUHARA HIDEO; DEGUCHI KENTARO; ABE KOJI; TAKASHIMA HIROSHI

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J-GLOBAL ID：201702229653440643 Reference number：17A0147842

NEFL遺伝子のPro22Ser(c.64C>T)ヘテロ接合体変異を認めたCharcot-Marie-Tooth病の17歳男性例

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Volume： 55 Issue： 4 Page： 299(J-STAGE) Publication year： 2015
JST Material Number： U0602A ISSN： 1882-0654 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 , Congenital diseases,deformities in general.

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