(Q73637174)

English

Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation

scientific article published on 01 March 2001

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11257468%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11257468%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

alternative mRNA splicing, via spliceosome

1 reference

based on heuristic

inferred from title

6

1 reference

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5 November 2019

author name string

L Fajkusová

1

1 reference

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5 November 2019

Z Lukás

2

1 reference

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5 November 2019

M Tvrdíková

3

1 reference

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5 November 2019

V Kuhrová

4

1 reference

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5 November 2019

J Hájek

5

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5 November 2019

publication date

1 March 2001

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5 November 2019

Neuromuscular Disorders

1 reference

Europe PubMed Central

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5 November 2019

11

1 reference

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5 November 2019

133-138

1 reference

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5 November 2019

2

1 reference

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5 November 2019

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900169-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FS0960-8966%2800%2900169-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900169-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900169-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900169-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Ectopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900169-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of two nonsense mutations in the human dystrophin gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900169-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900169-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900169-3

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA loop domains in a 1.4-Mb region around the human hprt gene mapped by cleavage mediated by nuclear matrix-associated topoisomerase II

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900169-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900169-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(00)00169-3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11257468%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11257468%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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