Dystrophin in frameshift deletion patients with Becker muscular dystrophy
about
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.Deletions in the 5' region of dystrophin and resulting phenotypes.Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophinMLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.Induced pluripotent stem cells: applications in regenerative medicine, disease modeling, and drug discovery.DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production.Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.Targeted exon skipping to address "leaky" mutations in the dystrophin gene.Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy.Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large CohortMonoclonal antibodies against the muscle-specific N-terminus of dystrophin: characterization of dystrophin in a muscular dystrophy patient with a frameshift deletion of exons 3-7.Exon skipping and translation in patients with frameshift deletions in the dystrophin gene.Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophinDystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype.Clinical Utility Gene Card for: Becker muscular dystrophy.
P2860
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P2860
Dystrophin in frameshift deletion patients with Becker muscular dystrophy
description
1992 nî lūn-bûn
@nan
1992 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Dystrophin in frameshift deletion patients with Becker muscular dystrophy
@ast
Dystrophin in frameshift deletion patients with Becker muscular dystrophy
@en
type
label
Dystrophin in frameshift deletion patients with Becker muscular dystrophy
@ast
Dystrophin in frameshift deletion patients with Becker muscular dystrophy
@en
prefLabel
Dystrophin in frameshift deletion patients with Becker muscular dystrophy
@ast
Dystrophin in frameshift deletion patients with Becker muscular dystrophy
@en
P2093
P2860
P1476
Dystrophin in frameshift deletion patients with Becker muscular dystrophy
@en
P2093
Dubowitz V
Gangopadhyay SB
Heckmatt JZ
Sherratt TG
P2860
P304
P407
P577
1992-09-01T00:00:00Z