(Q44871881)

7 December 2017

title

A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa (English)

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7 December 2017

main subject

epidermolysis bullosa

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Chuang GS

1

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7 December 2017

Martinez-Mir A

2

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7 December 2017

Yu HS

3

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7 December 2017

Sung FY

4

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7 December 2017

Chuang RY

5

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7 December 2017

Cserhalmi-Friedman PB

6

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7 December 2017

Christiano AM

7

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7 December 2017

publication date

1 May 2004

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Clinical and Experimental Dermatology

7 December 2017

published in

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7 December 2017

volume

29

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7 December 2017

issue

3

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7 December 2017

page(s)

304-307

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Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene

7 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2004.01495.X

Hereditary skin diseases of anchoring fibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2004.01495.X

Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2004.01495.X

Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2004.01495.X

A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2004.01495.X

10.1111/J.1365-2230.2004.01495.X

21 January 2018

Identifiers

DOI

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7 December 2017

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