(Q48245959)

9 February 2018

title

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy (English)

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9 February 2018

4

Mireille Claustres

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9 February 2018

Sylvie Tuffery-Giraud

series ordinal

1

object named as

Sylvie Tuffery-Giraud

1 reference

9 February 2018

Céline Saquet

2

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9 February 2018

Sylvie Chambert

series ordinal

3

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9 February 2018

publication date

1 June 2003

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9 February 2018

published in

Human Mutation

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9 February 2018

volume

21

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9 February 2018

issue

6

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9 February 2018

page(s)

608-614

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9 February 2018

Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

Prognostic factors in mild dystrophinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

7 January 2021

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

7 January 2021

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

7 January 2021

The DNA sequence of human chromosome 22

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

7 January 2021

Dystrophin abnormalities in Duchenne/Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

7 January 2021

A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in brief no. 212. Online

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

7 January 2021

Brain dystrophin, neurogenetics and mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

7 January 2021

Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

7 January 2021

Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

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/10.1002%2FHUMU.10214

7 January 2021

A new type of mutation causes a splicing defect in ATM.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

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.10214

7 January 2021

Multiple splicing defects in an intronic false exon

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

7 January 2021

Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

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/10.1002%2FHUMU.10214

7 January 2021

A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10214

7 January 2021

Identifiers

DOI

10.1002/HUMU.10214

1 reference

9 February 2018

release_idukyfccrzco3kcy2zjesvyfgq

Fatcat ID

0 references

1 reference

9 February 2018