Becker muscular dystrophy caused by exon 2-truncating mutation of DMD (Q91387543)

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22 April 2020

title

Becker muscular dystrophy caused by exon 2-truncating mutation of DMD (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31754439 AND SRC:MED&resulttype=core&format=json

Becker muscular dystrophy

22 April 2020

main subject

1 reference

Tetsuhiko Ikeda

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31754439 AND SRC:MED&resulttype=core&format=json

22 April 2020

Hidehiko Fujinaka

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31754439 AND SRC:MED&resulttype=core&format=json

22 April 2020

Kiyoe Goto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31754439 AND SRC:MED&resulttype=core&format=json

22 April 2020

Takashi Nakajima

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31754439 AND SRC:MED&resulttype=core&format=json

22 April 2020

Tetsuo Ozawa

5

1 reference

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22 April 2020

publication date

18 November 2019

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22 April 2020

published in

Human Genome Variation

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22 April 2020

volume

6

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22 April 2020

page(s)

52

1 reference

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

22 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1038/S41439-019-0083-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038/S41439-019-0083-5

7 January 2021

Deletions in the 5' region of dystrophin and resulting phenotypes

1 reference

https://api.crossref.org/works/10.1038/S41439-019-0083-5

7 January 2021

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

1 reference

https://api.crossref.org/works/10.1038/S41439-019-0083-5

7 January 2021

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

1 reference

https://api.crossref.org/works/10.1038/S41439-019-0083-5

7 January 2021

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

1 reference

https://api.crossref.org/works/10.1038/S41439-019-0083-5

7 January 2021

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes

1 reference

https://api.crossref.org/works/10.1038/S41439-019-0083-5

7 January 2021

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038/S41439-019-0083-5

7 January 2021

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

1 reference

https://api.crossref.org/works/10.1038/S41439-019-0083-5

7 January 2021

10.1038/S41439-019-0083-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31754439 AND SRC:MED&resulttype=core&format=json

22 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31754439 AND SRC:MED&resulttype=core&format=json

22 April 2020

PubMed publication ID

31754439

1 reference