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Cell surface and gene expression regulation molecules in dystrophinopathy: mdx vs. Duchenne
(Sociedad de Biología de Chile, 2005)
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene
(Elsevier Science, 2016-06)
Dystrophinopathies are X-linked recessive diseases caused by mutations in the DMD gene. Our objective was to identify mutations in this gene by Multiplex Ligation Probe Amplification (MLPA), to confirm the clinical diagnosis ...
Cell surface and gene expression regulation molecules in dystrophinopathy: mdx vs. Duchenne
(SOCIEDAD BIOLGIA CHILE, 2005)
Duchenne muscular dystrophy (DMD) is secondary to loss-of-function mutations in the dystrophin gene. The causes underlying the progression of DMD, differential muscle involvement, and the discrepancies in phenotypes among ...
Cell surface and gene expression regulation molecules in dystrophinopathy: mdx vs. Duchenne
(SOCIEDAD DE BIOLOGIA DE CHILE, 2005)
The dystrophinopathies in Costa RicaThe dystrophinopathies in Costa Rica
(Universidad de Costa Rica, 2004)
The dystrophinopathies in Costa Rica
(Universidad de Costa Rica, 2004)
Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort
(Pergamon-Elsevier Science Ltd, 2018-12)
Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical ...
Theragnosis for Duchenne Muscular Dystrophy
(Frontiers Media, 2021-06)
Dystrophinopathies cover a spectrum of rare progressive X-linked muscle diseases, arising from DMD mutations. They are among the most common pediatric muscular dystrophies, being Duchenne muscular dystrophy (DMD) the most ...
Genetic Profile Of Brazilian Patients With Dystrophinopathies
(Pergamon-Elsevier Science LTDOxford, 2016)