Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation (Q31892501)

4 July 2017

title

Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation (English)

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epidermolysis bullosa simplex with mottled pigmentation

4 July 2017

main subject

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Irvine AD

1

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4 July 2017

Rugg EL

2

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4 July 2017

Lane EB

3

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4 July 2017

Hoare S

4

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4 July 2017

Peret C

5

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4 July 2017

Hughes AE

6

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4 July 2017

Heagerty AH

7

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4 July 2017

language of work or name

English

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publication date

1 January 2001

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British Journal of Dermatology

4 July 2017

published in

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4 July 2017

volume

144

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4 July 2017

issue

1

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4 July 2017

page(s)

40-45

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Epidermolysis bullosa simplex with mottled pigmentation

4 July 2017

cites work

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https://api.crossref.org/works/10.1046/J.1365-2133.2001.03950.X

Epidermolysis bullosa simplex with mottled pigmentation. Case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046/J.1365-2133.2001.03950.X

A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046/J.1365-2133.2001.03950.X

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046/J.1365-2133.2001.03950.X

Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control

21 January 2018

1 reference

https://api.crossref.org/works/10.1046/J.1365-2133.2001.03950.X

The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1046/J.1365-2133.2001.03950.X

Identification of a nonapeptide motif in the vimentin head domain involved in intermediate filament assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1046/J.1365-2133.2001.03950.X

Identification and mutational analysis of the glycosylation sites of human keratin 18.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046/J.1365-2133.2001.03950.X

Complete amino acid sequence of a mouse epidermal keratin subunit and implications for the structure of intermediate filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1046/J.1365-2133.2001.03950.X

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046/J.1365-2133.2001.03950.X

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1046/J.1365-2133.2001.03950.X

N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1046/J.1365-2133.2001.03950.X

Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1046/J.1365-2133.2001.03950.X

10.1046/J.1365-2133.2001.03950.X

21 January 2018

Identifiers

DOI

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release_eaogqngqyngffdnqiycco2e3ti

4 July 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/eaogqngqyngffdnqiycco2e3ti

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference