×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GermlineCausalMutation
ORPHANET
×
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
×
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
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
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
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
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
CausalMutation
CLINVAR
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
15351422 2004
×
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
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study.
23756440 2014
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
CausalMutation
CLINVAR
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
20485447 2010
×
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
Hansenula anomala as spoilage agent of cream-filled cakes.
9760747 1998