(Q50553789)

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A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.

scientific article published on 28 July 2011

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scholarly article

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1 February 2020

A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21574979%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

dominant dystrophic epidermolysis bullosa

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dystrophic epidermolysis bullosa pruriginosa

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based on heuristic

inferred from title

7

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1 February 2020

author name string

C Covaciu

1

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1 February 2020

F Grosso

2

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1 February 2020

E Pisaneschi

3

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1 February 2020

G Zambruno

4

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1 February 2020

P A Gregersen

5

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1 February 2020

M Sommerlund

6

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1 February 2020

D Castiglia

8

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1 February 2020

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publication date

28 July 2011

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1 February 2020

British Journal of Dermatology

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1 February 2020

165

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1 February 2020

3

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1 February 2020

678-682

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1 February 2020

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10414.X

21 January 2018

Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10414.X

21 January 2018

New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10414.X

21 January 2018

Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10414.X

21 January 2018

Splicing fidelity, enhancers, and disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10414.X

21 January 2018

Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10414.X

21 January 2018

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10414.X

21 January 2018

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10414.X

21 January 2018

A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10414.X

21 January 2018

Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10414.X

21 January 2018

Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10414.X

21 January 2018

A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10414.X

21 January 2018

Identifiers

10.1111/J.1365-2133.2011.10414.X

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21574979%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

PubMed publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21574979%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

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