(Q48030989)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14987259%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

title

Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14987259%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

main subject

epidermolysis bullosa

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14987259%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

author name string

Márta Csikós

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14987259%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Zsuzsanna Szalai

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14987259%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Krisztina Becker

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14987259%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Béla Sebõk

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14987259%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Imre Schneider

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14987259%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

Attila Horváth

6

1 reference

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24 November 2019

publication date

1 March 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14987259%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

published in

Experimental Dermatology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14987259%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

volume

13

1 reference

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24 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14987259%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

page(s)

185-191

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14987259%20AND%20SRC:MED&resulttype=core&format=json

Intermediate filaments in disease

24 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.0906-6705.2004.0120.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0906-6705.2004.0120.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.0906-6705.2004.0120.X

Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0906-6705.2004.0120.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.0906-6705.2004.0120.X

Lethal Dowling-Meara-type epidermolysis bullosa simplex in a young infant

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0906-6705.2004.0120.X

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0906-6705.2004.0120.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.0906-6705.2004.0120.X

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0906-6705.2004.0120.X

Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0906-6705.2004.0120.X

Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0906-6705.2004.0120.X

The clinical spectrum of epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0906-6705.2004.0120.X

Changes in keratin gene expression during terminal differentiation of the keratinocyte

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0906-6705.2004.0120.X

A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0906-6705.2004.0120.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.0906-6705.2004.0120.X

Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0906-6705.2004.0120.X

10.1111/J.0906-6705.2004.0120.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14987259%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

1 reference