×
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
CausalMutation
CLINVAR
A population-based study of dystrophin mutations in Canada.
21515508 2011
×
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
Cannabis diagnosis of patients receiving treatment for cocaine dependence.
2136098 1990
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
21396098 2011
×
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
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
Diagnostic strategy for the detection of dystrophin gene mutations in asian patients and carriers using immortalized cell lines.
16566881 2006
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.
19206170 2009
×
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
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
Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.
18652600 2008
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Dystrophin point mutation screening using a multiplexed protein truncation test.
10464635 1997
×
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
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
CausalMutation
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
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
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
16049303 2005
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.
21969337 2011
×
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
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.
21399986 2011
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Hansenula anomala as spoilage agent of cream-filled cakes.
9760747 1998
×
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
LOVD v.2.0: the next generation in gene variant databases.
21520333 2011
×
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