Browsing by Subject "myophosphorylase gene"
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A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease
(2002)We identified a novel stop codon mutation in the myophosphorylase gene in a Greek patient with typical symptoms of McArdle's disease. This is the first genetic study of myophosphorylase deficiency in a Greek family, showing ...