Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy (Q46111708)

19 December 2017

title

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

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19 December 2017

5

Jeffrey A Towbin

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19 December 2017

author name string

Jinong Feng

1

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19 December 2017

Jin Yan Yan

2

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19 December 2017

Carolyn H Buzin

3

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19 December 2017

Steve S Sommer

4

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19 December 2017

language of work or name

English

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publication date

1 September 2002

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19 December 2017

Journal of the American College of Cardiology

published in

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19 December 2017

volume

40

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19 December 2017

page(s)

1120-1124

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19 December 2017

issue

6

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19 December 2017

The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

X-linked dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

A novel X-linked gene, G4.5. is responsible for Barth syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Mutation characterization and genotype-phenotype correlation in Barth syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

A mutation in the X-linked Emery–Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series

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https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

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/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: evidence that the scanning conditions are generic

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Molecular remodelling of dystrophin in patients with end-stage cardiomyopathies and reversal in patients on assistance-device therapy.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

Enteroviral protease 2A directly cleaves dystrophin and is inhibited by a dystrophin-based substrate analogue

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2902126-5

7 January 2021

10.1016/S0735-1097(02)02126-5

Identifiers

DOI

1 reference

19 December 2017

release_x4praisghnbetirqjietnpu34u

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/x4praisghnbetirqjietnpu34u

24 November 2022

mapped directly with Wikidata item

PubMed ID

12354438

1 reference

19 December 2017