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J-GLOBAL ID:201702231134582844   Reference number:17A0283314

Mutation in hnRNPA1 causes isolated inclusion body myopathy in two families with multisystem proteinopathy

hnRNPA1の突然変異は多系統蛋白症を伴う2つの家族における孤立性封入体ミオパチーを引き起こす
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Material:
Volume: 61st(Web)  Page: ROMBUNNO.Mon(2)-O7-5 (WEB ONLY)  Publication year: 2016 
JST Material Number: L1204A  Document type: Proceedings
Article type: 短報  Country of issue: Japan (JPN)  Language: ENGLISH (EN)
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Genetic variation  ,  Gene expression  ,  Congenital diseases,deformities in general.  ,  Diagnostics of congenital diseases, deformities. 
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