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

Human mutation - 1 Jan 1995

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

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PMID: 8535454
DOI: 10.1002/humu.1380060318

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Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).PMID 8535454Read ↗

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