(Q84468361)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20574443%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20574443%20AND%20SRC:MED&resulttype=core&format=json

recessive dystrophic epidermolysis bullosa

6 February 2020

main subject

0 references

author

María José Escámez

3

1 reference

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Natividad Cuadrado Corrales

6 February 2020

6

1 reference

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6 February 2020

author name string

Anna M G Pasmooij

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20574443%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Marta Garcia

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20574443%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

A Miranda Nijenhuis

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20574443%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Antoni Azon

5

1 reference

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6 February 2020

Marcel F Jonkman

7

1 reference

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6 February 2020

Marcela Del Rio

8

1 reference

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6 February 2020

language of work or name

English

0 references

publication date

24 June 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20574443%20AND%20SRC:MED&resulttype=core&format=json

Journal of Investigative Dermatology

6 February 2020

published in

1 reference

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6 February 2020

volume

130

1 reference

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6 February 2020

issue

10

1 reference

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6 February 2020

page(s)

2407-2411

1 reference

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https://scigraph.springernature.com/pub.10.1038/jid.2010.163

6 February 2020

exact match

0 references

cites work

Revertant mosaicism in recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

A role for sunlight in skin cancer: UV-induced p53 mutations in squamous cell carcinoma

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

Revertant somatic mosaicism in the Wiskott-Aldrich syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

A role for ultraviolet A in solar mutagenesis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

Fibroblasts show more potential as target cells than keratinocytes in COL7A1 gene therapy of dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

In vivo reversion to normal of inherited mutations in humans

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

Revertant mosaicism--patchwork in the skin.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

The epitope for anti-type VII collagen monoclonal antibody (LH7:2) locates at the central region of the N-terminal non-collagenous domain of type VII collagen

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.163

7 January 2021