Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
about
Analysis of cancer mutation signatures in blood by a novel ultra-sensitive assay: monitoring of therapy or recurrence in non-metastatic breast cancerAutomated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe DiseaseOn the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Viral-mediated gene therapy for the muscular dystrophies: successes, limitations and recent advancesMutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.Microarray-based mutation detection in the dystrophin gene.Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online databaseMeasurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto RicoEteplirsen in the treatment of Duchenne muscular dystrophyDMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides.An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.
P2860
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P2860
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
@en
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
@nl
type
label
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
@en
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
@nl
prefLabel
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
@en
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
@nl
P2093
P2860
P356
P1433
P1476
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
@en
P2093
Carolyn H Buzin
Jerry R Mendell
Jinong Feng
Johan den Dunnen
Steve S Sommer
William Scaringe
P2860
P304
P356
10.1002/HUMU.20132
P577
2005-02-01T00:00:00Z