Deschauer, M <br/><br/>
A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease.  [electronic resource] 

 -  Molecular genetics and metabolism  Dec 2001 
 - 489-91 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1096-7192 
<br/><br/><label>Standard No.: </label>10.1006/mgme.2001.3252  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Codon, Nonsense<br/>Female<br/>Genetic Heterogeneity<br/>Glycogen Phosphorylase, Muscle Form--genetics<br/>Glycogen Storage Disease Type V--enzymology<br/>Humans