×
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
×
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
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
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
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
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
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
Dystrophin point mutation screening using a multiplexed protein truncation test.
10464635 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
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
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
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
CausalMutation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015