(Q51770570)

12 April 2018

title

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. (English)

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12 April 2018

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Yasuhiro Takeshima

1

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12 April 2018

Mariko Yagi

2

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12 April 2018

Yo Okizuka

3

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12 April 2018

Hiroyuki Awano

4

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12 April 2018

Zhujun Zhang

5

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12 April 2018

Yumiko Yamauchi

6

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12 April 2018

Hisahide Nishio

7

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12 April 2018

Masafumi Matsuo

8

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12 April 2018

publication date

20 May 2010

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12 April 2018

Journal of Human Genetics

published in

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12 April 2018

volume

55

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12 April 2018

issue

6

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12 April 2018

page(s)

379-388

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12 April 2018

https://scigraph.springernature.com/pub.10.1038/jhg.2010.49

exact match

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cites work

The structural and functional diversity of dystrophin

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

21 January 2018

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Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

21 January 2018

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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

21 January 2018

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Deletion and duplication screening in the DMD gene using MLPA.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

Microarray-based mutation detection in the dystrophin gene

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

PTC124 targets genetic disorders caused by nonsense mutations

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

C-terminal truncated dystrophin identified in skeletal muscle of an asymptomatic boy with a novel nonsense mutation of the dystrophin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.49

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

Small mutations of the DMD gene in Taiwanese families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

Duchenne/Becker muscular dystrophy: from molecular diagnosis to gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

7 January 2021

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

7 January 2021

Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

7 January 2021

Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

7 January 2021

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

7 January 2021

Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

7 January 2021

Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

7 January 2021

Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

7 January 2021

Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

7 January 2021

In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

7 January 2021

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.49

7 January 2021

Identifiers

DOI

10.1038/JHG.2010.49

1 reference

12 April 2018

release_3eqi7ngvwvdnhgdbjfiw4upgba

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3eqi7ngvwvdnhgdbjfiw4upgba

24 November 2022

mapped directly with Wikidata item

1 reference

12 April 2018