(Q42556026)

2 November 2017

A Novel non-sense Mutation in Keratin 10 Causes a Familial Case of Recessive Epidermolytic Ichthyosis (English)

1 reference

2 November 2017

Jeydith A Gutierrez

1

1 reference

2 November 2017

Zeina C Hannoush

2

1 reference

2 November 2017

Luis G Vargas

3

1 reference

2 November 2017

Allison Momany

4

1 reference

2 November 2017

Carmen C Garcia

5

1 reference

2 November 2017

Jeffrey C Murray

6

1 reference

2 November 2017

Martine Dunnwald

7

1 reference

2 November 2017

1 July 2013

1 reference

Molecular genetics & genomic medicine

2 November 2017

1 reference

2 November 2017

1

1 reference

2 November 2017

2

1 reference

2 November 2017

108-112

1 reference

A map of human genome variation from population-scale sequencing

2 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3744379

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3744379

The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3744379

Onset of keratin 17 expression coincides with the definition of major epithelial lineages during skin development

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3744379

Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3744379

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3744379

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

16 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMGG3.6

Generalized Epidermolytic Hyperkeratosis in Two Unrelated Children from Parents with Localized Linear Form, and Prenatal Diagnosis

21 January 2018

1 reference

12 December 2020

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis

1 reference

12 December 2020

Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation

1 reference

12 December 2020

Epidermolytic hyperkeratosis

1 reference

12 December 2020

Identifiers

DOI

10.1002/MGG3.6

1 reference

2 November 2017

1 reference

2 November 2017

PubMed publication ID

23957016

1 reference