Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
about
Aminoglycosides and other nonsense suppression therapies for the treatment of dystrophinopathySensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastomaDMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsAutomated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.Rapid direct sequence analysis of the dystrophin geneScreening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation.The use of denaturing high-performance liquid chromatography (DHPLC) for the analysis of genetic variations: impact for diagnostics and pharmacogenetics.Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26.Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.Diagnosis 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.Microarray-based mutation detection in the dystrophin gene.Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto RicoOne hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss.Capillary electrophoresis for analysis of deletion and duplication in exon 44-55 of Duchenne muscular dystrophy gene.Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients.Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.Hydrogel biomaterials and their therapeutic potential for muscle injuries and muscular dystrophies.
P2860
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P2860
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
description
2001 nî lūn-bûn
@nan
2001 թուականին հրատարակուած գիտական յօդուած
@hyw
2001 թվականին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Detection of mutations in the ...... creening and direct sequencing
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Detection of mutations in the ...... creening and direct sequencing
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Detection of mutations in the ...... creening and direct sequencing
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type
label
Detection of mutations in the ...... creening and direct sequencing
@ast
Detection of mutations in the ...... creening and direct sequencing
@en
Detection of mutations in the ...... creening and direct sequencing
@nl
prefLabel
Detection of mutations in the ...... creening and direct sequencing
@ast
Detection of mutations in the ...... creening and direct sequencing
@en
Detection of mutations in the ...... creening and direct sequencing
@nl
P2093
P2860
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Detection of mutations in the ...... creening and direct sequencing
@en
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B T Darras
J den Dunnen
K F O'Brien
L M Kunkel
R R Bennett
P2860
P2888
P3181
P356
10.1186/1471-2156-2-17
P407
P577
2001-01-01T00:00:00Z
P5875
P6179
1031965872