×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GeneticVariation
CLINVAR
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
17041906 2007
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GeneticVariation
CLINVAR
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.
23453023 2013
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GeneticVariation
CLINVAR
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
25007885 2014
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GeneticVariation
CLINVAR
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.
16770791 2006
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GeneticVariation
CLINVAR
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
17259292 2007
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GeneticVariation
CLINVAR
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
27854218 2016
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GeneticVariation
CLINVAR
A case report with the peculiar concomitance of 2 different genetic syndromes.
27930565 2016
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GeneticVariation
CLINVAR
Transposable elements in disease-associated cryptic exons.
19823873 2010
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GeneticVariation
CLINVAR
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.
22223181 2012
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GeneticVariation
CLINVAR
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.
14659407 2004
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GeneticVariation
CLINVAR
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
19937601 2009
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GeneticVariation
CLINVAR
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.
17854090 2008
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
19793655 2009
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
26911353 2016
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
23536893 2013
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.
25244321 2014
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients.
10196701 1999
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.
10909857 2000
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Exon skipping-mediated dystrophin reading frame restoration for small mutations.
19760747 2009
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis.
9067763 1997
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
28859693 2017
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
25972034 2015
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
27593222 2017
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
19937601 2009
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
25007885 2014