Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases (Q34569523)

3 August 2017

title

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases (English)

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epidermolysis bullosa simplex

3 August 2017

main subject

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Yasukawa K

1

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3 August 2017

Sawamura D

2

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3 August 2017

Goto M

3

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Nakamura H

4

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3 August 2017

Jung SY

5

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3 August 2017

Kim SC

6

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Shimizu H

7

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language of work or name

English

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publication date

1 August 2006

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British Journal of Dermatology

3 August 2017

published in

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volume

155

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3 August 2017

issue

2

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3 August 2017

page(s)

313-317

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

3 August 2017

cites work

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https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

The molecular genetics of the genodermatoses: progress to date and future directions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

A keratin K5 mutation (Leu 463→Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

A keratin K14 gene mutation in a Japanese patient with the Dowling-Meara type of epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2006.07285.X

10.1111/J.1365-2133.2006.07285.X

21 January 2018

Identifiers

DOI

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3 August 2017

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