Title : Molecular characterization of McArdle's disease in two large Finnish families.

Pub. Date : 1999 Jun 1

PMID : 10450796






1 Functional Relationships(s)
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1 In one, we identified a new nonsense mutation at codon 540 in exon 14 of the myophosphorylase gene, changing an encoded glutamic acid to a stop codon (E540X). Glutamic Acid glycogen phosphorylase, muscle associated Homo sapiens