A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.

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Dou W, Peng C, Zheng J, Gu X, Fu L, Martiniuk F, Sheng HZ

A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.

Clin Chim Acta. 2006 Dec;374(1-2):145-6. Epub 2006 Jun 19.

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16782080 [ View in PubMed
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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Lysosomal alpha-glucosidaseP10253Details