(Q48086059)

8 February 2018

title

Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family (English)

1 reference

8 February 2018

Duchenne muscular dystrophy

main subject

1 reference

Wilton SD

1

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8 February 2018

Chandler DC

series ordinal

2

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8 February 2018

Kakulas BA

series ordinal

3

1 reference

8 February 2018

Laing NG

series ordinal

4

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8 February 2018

publication date

1 January 1994

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8 February 2018

published in

Human Mutation

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8 February 2018

volume

3

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8 February 2018

issue

2

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8 February 2018

page(s)

133-140

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8 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Germline mosaicism and Duchenne muscular dystrophy mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

A polymorphic CACA repeat in the 3' untranslated region of dystrophin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Association of dystrophin and an integral membrane glycoprotein.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Genotype/phenotype correlations in Duchenne/Becker dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

RFLP for Duchenne muscular dystrophy cDNA clone 44-1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Point mutations in the dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Exon structure of the human dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Point mutation in a Becker muscular dystrophy patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380030208

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380030208

1 reference

8 February 2018

1 reference

8 February 2018