Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).

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Tsujino S, Shanske S, Martinuzzi A, Heiman-Patterson T, DiMauro S

Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).

Hum Mutat. 1995;6(3):276-7.

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8535454 [ View in PubMed
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Polypeptides
NameUniProt ID
Glycogen phosphorylase, muscle formP11217Details