(Q36016839)

11 August 2017

1 reference

title

Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event (English)

1 reference

epidermolytic hyperkeratosis

11 August 2017

1 reference

1 reference

Nicole L Lacz

1

1 reference

PubMed ID

15663649

11 August 2017

Robert A Schwartz

series ordinal

2

1 reference

PubMed ID

15663649

11 August 2017

George Kihiczak

series ordinal

3

1 reference

11 August 2017

1 January 2005

1 reference

International Journal of Dermatology

11 August 2017

1 reference

11 August 2017

44

1 reference

11 August 2017

1

1 reference

11 August 2017

1-6

1 reference

Clinical heterogeneity in epidermolytic hyperkeratosis

11 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

Pemphigoid in domestic animals

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

Genetically Induced Abnormalities of Epidermal Differentiation and Ultrastructure in Ichthyoses and Epidermolyses: Pathogenesis, heterogeneity, Fetal Manifestation, and Prenatal Diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

Characterization of an immortalized cell line from a patient with epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

Phenotypes, genotypes and their contribution to understanding keratin function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.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.1365-4632.2004.02364.X

Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

A Patient with Congenital Ichthyosis Hystrix (Disseminated Congenital Naevus) and Acute Lymphoblastic Leukaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

Epidermolytic hyperkeratosis associated with melanocytic nevi: a report of 53 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

Altered keratin expression in ichthyosis hystrix Curth-Macklin. A light and electron microscopic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

Progress in heritable skin diseases: molecular bases and clinical implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.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.1365-4632.2004.02364.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.1365-4632.2004.02364.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

DNA repair gene XPD and susceptibility to arsenic-induced hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

An Atypical Form of Bullous Congenital Ichthyosiform Erythroderma is Caused by a Mutation in the L12 Linker Region of Keratin 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-4632.2004.02364.X

10.1111/J.1365-4632.2004.02364.X

21 January 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference

PubMed ID

15663649