DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients (Q57200516)

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17 November 2019

title

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

1 reference

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Becker muscular dystrophy

17 November 2019

main subject

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1

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17 November 2019

author name string

Rolf Vossen

3

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17 November 2019

Marian Kraak

5

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17 November 2019

Egbert Bakker

8

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17 November 2019

Inge M Mulder

2

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17 November 2019

Pia A M de Koning-Gans

4

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17 November 2019

Ieke B Ginjaar

6

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17 November 2019

Annemarie H van der Hout

7

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17 November 2019

Charles H C M Buys

9

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17 November 2019

Gert-Jan B van Ommen

10

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17 November 2019

Anthonie J van Essen

11

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17 November 2019

Johan T den Dunnen

12

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17 November 2019

publication date

1 January 2004

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17 November 2019

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17 November 2019

volume

23

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17 November 2019

issue

1

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17 November 2019

page(s)

57-66

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Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

17 November 2019

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

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Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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Membrane organization of the dystrophin-glycoprotein complex

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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

Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?

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Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy

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

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A simple method for identification of point mutations using denaturing gradient gel electrophoresis

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7 January 2021

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

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7 January 2021

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

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7 January 2021

Muscle type promoter and its first intron abnormalities in dystrophin gene in patients with Duchenne muscular dystrophy

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy

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7 January 2021

A refined restriction map of YAC clones spanning the entire human dystrophin gene

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7 January 2021

Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing

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7 January 2021

Point mutations in the dystrophin gene

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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

Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations

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7 January 2021

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

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7 January 2021

Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Identifiers

DOI

10.1002/HUMU.10283

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14695533%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference