Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).

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Huie ML, Hirschhorn R, Chen AS, Martiniuk F, Zhong N

Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).

Hum Mutat. 1994;4(4):291-3.

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7866409 [ View in PubMed
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Polypeptides
NameUniProt ID
Lysosomal alpha-glucosidaseP10253Details