(Q54764281)

3 June 2018

title

Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures. (English)

1 reference

3 June 2018

1 reference

Helderman-van den Enden AT

1

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3 June 2018

Ginjaar HB

2

1 reference

3 June 2018

Kneppers AL

3

1 reference

3 June 2018

Bakker E

4

1 reference

3 June 2018

Breuning MH

5

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3 June 2018

de Visser M

6

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3 June 2018

publication date

1 May 2003

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3 June 2018

published in

Neuromuscular Disorders

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3 June 2018

volume

13

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3 June 2018

page(s)

317-321

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3 June 2018

issue

4

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3 June 2018

Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900285-7

7 January 2021

Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900285-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900285-7

7 January 2021

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900285-7

7 January 2021

Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900285-7

7 January 2021

Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900285-7

7 January 2021

Somatic mosaicism at the Duchenne locus

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900285-7

7 January 2021

Somatic mosaicism for a DMD gene deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900285-7

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900285-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900285-7

7 January 2021

Monoclonal antibody evidence for structural similarities between the central rod regions of actinin and dystrophin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900285-7

7 January 2021

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900285-7

7 January 2021

Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900285-7

7 January 2021

10.1016/S0960-8966(02)00285-7

Identifiers

DOI

1 reference

3 June 2018

PubMed ID

12868501

1 reference

3 June 2018