Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.
about
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.Identification of a new DMD gene deletion by ectopic transcript analysisPredicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMD family.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.Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencingDeletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.Clinical and genetic characterization of manifesting carriers of DMD mutationsNonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor geneThe identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation testDeletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy.Point mutations in the dystrophin gene.Exon skipping and translation in patients with frameshift deletions in the dystrophin gene.An intact cysteine-rich domain is required for dystrophin function.Functional significance of dystrophin positive fibres in Duchenne muscular dystrophyDMD transcripts in CRL-2061 rhabdomyosarcoma cells show high levels of intron retention by intron-specific PCR amplification.Characterization of revertant muscle fibers in Duchenne muscular dystrophy, using exon-specific monoclonal antibodies against dystrophin.High efficiency of muscle regeneration after human myoblast clone transplantation in SCID mice.
P2860
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P2860
Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.
description
1991 nî lūn-bûn
@nan
1991 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Direct detection of dystrophin ...... peripheral blood lymphocytes.
@ast
Direct detection of dystrophin ...... peripheral blood lymphocytes.
@en
type
label
Direct detection of dystrophin ...... peripheral blood lymphocytes.
@ast
Direct detection of dystrophin ...... peripheral blood lymphocytes.
@en
prefLabel
Direct detection of dystrophin ...... peripheral blood lymphocytes.
@ast
Direct detection of dystrophin ...... peripheral blood lymphocytes.
@en
P2093
P2860
P1476
Direct detection of dystrophin ...... peripheral blood lymphocytes.
@en
P2093
P2860
P304
P407
P577
1991-08-01T00:00:00Z