about
Aminoglycosides and other nonsense suppression therapies for the treatment of dystrophinopathySurvey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%ZZ domain of dystrophin and utrophin: topology and mapping of a beta-dystroglycan interaction siteA candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addictionDMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsAutomated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetingsDelayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing2004 William Allan Award address. Cloning of the DMD gene.The ZZ domain of dystrophin in DMD: making sense of missense mutations.Clinical and genetic characterization of manifesting carriers of DMD mutationsMolecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapiesNonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophyGene therapy for muscular dystrophy: moving the field forward.Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.Whole body skeletal muscle transduction in neonatal dogs with AAV-9.Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.The molecular era of myology.A larger spectrum of intragenic short tandem repeats improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from southern Italy.Experience and strategy for the molecular testing of Duchenne muscular dystrophy.Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26.Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene.Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.The interface of genomic technologies and nursing.Emerging drugs for Duchenne muscular dystrophyPrognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathyGene therapy for muscular dystrophy: lessons learned and path forwardDiagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish.A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis.Molecular therapeutic strategies targeting Duchenne muscular dystrophyMicroarray-based mutation detection in the dystrophin gene.Down-regulation of hepcidin in porphyria cutanea tardaGenetic isolation and characterization of a splicing mutant of zebrafish dystrophin.DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մարտին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Rapid direct sequence analysis of the dystrophin gene
@ast
Rapid direct sequence analysis of the dystrophin gene
@en
type
label
Rapid direct sequence analysis of the dystrophin gene
@ast
Rapid direct sequence analysis of the dystrophin gene
@en
prefLabel
Rapid direct sequence analysis of the dystrophin gene
@ast
Rapid direct sequence analysis of the dystrophin gene
@en
P2093
P2860
P356
P1476
Rapid direct sequence analysis of the dystrophin gene
@en
P2093
Andrew von Niederhausern
Diane M Dunn
Jerry R Mendell
Robert B Weiss
P2860
P304
P356
10.1086/374176
P407
P577
2003-03-11T00:00:00Z