(Q51740291)

11 April 2018

title

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

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11 April 2018

author name string

Emma J Ashton

1

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11 April 2018

Shu C Yau

2

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11 April 2018

Zandra C Deans

3

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11 April 2018

Stephen J Abbs

4

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11 April 2018

publication date

29 August 2007

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11 April 2018

European Journal of Human Genetics

published in

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11 April 2018

volume

16

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11 April 2018

issue

1

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11 April 2018

page(s)

53-61

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11 April 2018

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse

cites work

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PTC124 targets genetic disorders caused by nonsense mutations

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Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene

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The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol

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Prevalence and incidence of Becker muscular dystrophy

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

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201916

7 January 2021

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

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

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201916

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

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201916

7 January 2021

A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods

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Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

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

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7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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

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Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

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Rapid direct sequence analysis of the dystrophin gene

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7 January 2021

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

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7 January 2021

Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection.

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7 January 2021

A novel and rapid mutation screening approach facilitates prenatal diagnosis

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Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors.

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Splicing intervention for Duchenne muscular dystrophy.

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201916

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11 April 2018

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11 April 2018