Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut
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Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiencyCorrelation of clinical and deletion data in Duchenne and Becker muscular dystrophy.Duchenne muscular dystrophy in Wales: impact of DNA linkage analysis and cDNA deletion screening.Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion.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.Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes.Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene.Germline and somatic mosaicism in a female carrier of Hunter diseaseDeletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.Molecular studies of deletions at the human steroid sulfatase locus.Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling.The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletionGerm-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlationRFLPs for Duchenne muscular dystrophy cDNA clones 9 and 10Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA.ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophyDystrophin analysis in the diagnosis of muscular dystrophyEvidence of Insulin Resistance and Other Metabolic Alterations in Boys with Duchenne or Becker Muscular Dystrophy.Experience and strategy for the molecular testing of Duchenne muscular dystrophy.Gene Therapy for Duchenne muscular dystrophy.Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.Becker muscular dystrophy: correlation of deletion type with clinical severity.Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.An inherited dystrophin deletion without muscle weakness.A novel splice site mutation in a Becker muscular dystrophy patient.Extended electrophoresis resolves the dystrophin gene 5.2-kbp cDMD4-5a/HindIII fragment into two bands.Informative microsatellite markers allow carrier detection in a Duchenne muscular dystrophy deletion pedigree in the absence of DNA from an affected boy.A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin.
P2860
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P2860
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut
description
1988 nî lūn-bûn
@nan
1988 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Intragenic deletions in 21 Duc ...... and mitotic origin of the mut
@ast
Intragenic deletions in 21 Duc ...... and mitotic origin of the mut
@en
type
label
Intragenic deletions in 21 Duc ...... and mitotic origin of the mut
@ast
Intragenic deletions in 21 Duc ...... and mitotic origin of the mut
@en
prefLabel
Intragenic deletions in 21 Duc ...... and mitotic origin of the mut
@ast
Intragenic deletions in 21 Duc ...... and mitotic origin of the mut
@en
P2093
P2860
P1476
Intragenic deletions in 21 Duc ...... and mitotic origin of the mut
@en
P2093
P2860
P304
P407
P577
1988-11-01T00:00:00Z