(Q45885634)

17 December 2017

title

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies (English)

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17 December 2017

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Mireille Claustres

7

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PubMed ID

16077730

17 December 2017

Sylvie Tuffery-Giraud

object named as

Sylvie Tuffery-Giraud

1

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17 December 2017

Céline Saquet

2

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17 December 2017

Delphine Thorel

3

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17 December 2017

Antoine Disset

4

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17 December 2017

François Rivier

5

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17 December 2017

Sue Malcolm

6

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17 December 2017

publication date

1 December 2005

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17 December 2017

European Journal of Human Genetics

published in

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17 December 2017

volume

13

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17 December 2017

page(s)

1254-1260

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17 December 2017

issue

12

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17 December 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201478

exact match

0 references

cites work

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis

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

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Point mutation in a Becker muscular dystrophy patient.

21 January 2018

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A novel splice site mutation in a Becker muscular dystrophy patient

21 January 2018

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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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Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.

21 January 2018

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Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.

21 January 2018

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Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

21 January 2018

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Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations

21 January 2018

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Rapid direct sequence analysis of the dystrophin gene

21 January 2018

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

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Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

21 January 2018

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Pre-mRNA splicing and human disease

21 January 2018

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ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

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Systematic identification and analysis of exonic splicing silencers.

21 January 2018

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Predictive identification of exonic splicing enhancers in human genes

21 January 2018

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Point mutations in the dystrophin gene

21 January 2018

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

21 January 2018

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Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

21 January 2018

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Nonsense-mediated mRNA decay in mammals

21 January 2018

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Assembly of the dystrophin-associated protein complex does not require the dystrophin COOH-terminal domain

21 January 2018

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ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan

21 January 2018

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Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex

21 January 2018

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Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping

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DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

21 January 2018

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Evaluation of the cardiomyopathy in becker muscular dystrophy

21 January 2018

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The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities

21 January 2018

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7 January 2021

Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation

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7 January 2021

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

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7 January 2021

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

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7 January 2021

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

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7 January 2021

Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects

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7 January 2021

Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

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7 January 2021

Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201478

1 reference

17 December 2017

Dimensions Publication ID

0 references

1 reference

17 December 2017