Art
J-GLOBAL ID:200902206501525919   Reference number:05A0354379

Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation

Walker-Warburg症候群患者に見出されるPOMT1遺伝子の変異は蛋白質O-マンノシル化の欠失につながる
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Material:
Volume: 325  Issue:Page: 75-79  Publication year: Dec. 03, 2004 
JST Material Number: B0118A  ISSN: 0006-291X  Document type: Article
Article type: 原著論文  Country of issue: Netherlands (NLD)  Language: ENGLISH (EN)
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Congenital diseases,deformities in general.  ,  Muscles 

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