(Q47298003)

13 January 2018

title

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene (English)

1 reference

13 January 2018

diffuse epidermolytic palmoplantar keratoderma

main subject

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author

Alessandro Terrinoni

2

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13 January 2018

Alan D. Irvine

6

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13 January 2018

Irwin McLean

7

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13 January 2018

author name string

Terron-Kwiatkowski A

1

1 reference

13 January 2018

Didona B

3

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13 January 2018

Melino G

4

1 reference

13 January 2018

Atherton DJ

5

1 reference

13 January 2018

language of work or name

English

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publication date

1 June 2004

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13 January 2018

British Journal of Dermatology

published in

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13 January 2018

volume

150

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13 January 2018

issue

6

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13 January 2018

page(s)

1096-1103

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13 January 2018

Cytokeratin No. 9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity.

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

Clinical heterogeneity in epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

The Two Size Alleles of Human Keratin 1 Are Due to a Deletion in the Glycine-Rich Carboxyl-Terminal V2 Subdomain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.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/10.1111%2FJ.1365-2133.2004.05967.X

Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.05967.X

10.1111/J.1365-2133.2004.05967.X

21 January 2018

Identifiers

DOI

1 reference

13 January 2018

PubMed ID

15214894

1 reference

13 January 2018