(Q28250077)

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High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa

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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:15888141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15888141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

epidermolysis bullosa

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Sarolta Kárpáti

6

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11 January 2020

author name string

Csikós M

1

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11 January 2020

Szocs HI

2

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11 January 2020

Lászik A

3

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11 January 2020

Mecklenbeck S

4

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11 January 2020

Horváth A

5

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11 January 2020

Bruckner-Tuderman L

7

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11 January 2020

language of work or name

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publication date

1 May 2005

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11 January 2020

British Journal of Dermatology

1 reference

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11 January 2020

152

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11 January 2020

5

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11 January 2020

879-886

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11 January 2020

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1111/J.1365-2133.2005.06542.X

22 April 2017

Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06542.X

21 January 2018

A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06542.X

21 January 2018

Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06542.X

21 January 2018

A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06542.X

21 January 2018

Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06542.X

21 January 2018

Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06542.X

21 January 2018

Monoclonal antibody GB3, a new probe for the study of human basement membranes and hemidesmosomes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06542.X

21 January 2018

Integrin alpha 6/beta 4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell-basement membrane adhesion

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06542.X

21 January 2018

Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06542.X

21 January 2018

Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06542.X

21 January 2018

Identifiers

10.1111/J.1365-2133.2005.06542.X

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15888141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15888141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

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