PMID 27930565 2016 A case report with the peculiar concomitance of 2 different genetic syndromes.
PMID 19937601 2009 Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
PMID 17854090 2008 Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.
PMID 17259292 2007 Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
rs373286166 in
DMD gene and
Muscular Dystrophy, Duchenne
PMID 22223181 2012 Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.
PMID 17259292 2007 Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
PMID 17854090 2008 Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.
PMID 19937601 2009 Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
PMID 27930565 2016 A case report with the peculiar concomitance of 2 different genetic syndromes.