Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
about
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.The elimination of primer-dimer accumulation in PCRDisease-specific induced pluripotent stem cellsAntisense-mediated exon skipping: a versatile tool with therapeutic and research applicationsDetection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencingIdentification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assayAnalysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan PatientsThe importance of genetic diagnosis for Duchenne muscular dystrophyA large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?Enhanced Reprogramming Efficiency and Kinetics of Induced Pluripotent Stem Cells Derived from Human Duchenne Muscular DystrophyDMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsMolecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.Molecular biology of neurological diseases.A unique case of dystrophinopathy.Impact of carrier status determination for Duchenne/Becker muscular dystrophy by computer-assisted laser densitometry.Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.Dystrophin is transcribed in brain from a distant upstream promoter.Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy.Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.Identification of a new DMD gene deletion by ectopic transcript analysisQuantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications.Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy.Dystrophin analysis in idiopathic dilated cardiomyopathy.Deletions in the 5' region of dystrophin and resulting phenotypes.A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus.Dilated cardiomyopathy and the dystrophin gene: an illustrated reviewDuchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMDIdentification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene.Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familesRapid direct sequence analysis of the dystrophin gene2004 William Allan Award address. Cloning of the DMD gene.Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.Patterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patientsIdentification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapiesAbnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations.A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.
P2860
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P2860
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
description
1990 nî lūn-bûn
@nan
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
1990年论文
@zh
1990年论文
@zh-cn
name
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
@en
type
label
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
@en
prefLabel
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
@en
P2093
P356
P1433
P1476
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
@en
P2093
P2888
P356
10.1007/BF00205170
P577
1990-11-01T00:00:00Z
P6179
1007372734