×
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
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
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
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
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
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
26968818 2018
×
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
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
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
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
19959795 2010
×
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
CausalMutation
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
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
CausalMutation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
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
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
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
Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.
17726484 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
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
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
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
27708273 2017
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Muscular Dystrophy, Duchenne
1.000
GeneticVariation
CLINVAR
Transposable elements in disease-associated cryptic exons.
19823873 2010