High-resolution Melting Facilitates Mutation Screening ofPYGMin Patients with McArdle Disease
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-1809.2009.00512.x/fullpdf
Reference32 articles.
1. Do carriers of PYGM mutations have symptoms of McArdle disease?;Andersen;Neurology,2006
2. Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation;Aquaron;Neuromuscul Disord,2007
3. Validation of High-Resolution DNA Melting Analysis for Mutation Scanning of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene;Audrezet;J Mol Diagn,2008
4. McArdle disease: the mutation spectrum of PYGM in a large Italian cohort;Bruno;Hum Mutat,2006
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