Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations. (Q34571727)

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20 December 2019

title

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations (English)

1 reference

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epidermolysis bullosa simplex

20 December 2019

main subject

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7

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20 December 2019

author name string

Elizabeth L Rugg

1

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20 December 2019

Helen M Horn

2

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20 December 2019

Frances J Smith

3

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20 December 2019

Neil J Wilson

4

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20 December 2019

Alison J M Hill

5

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20 December 2019

Gareth J Magee

6

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20 December 2019

David U Baty

8

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20 December 2019

Michael J Tidman

9

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20 December 2019

E Birgitte Lane

10

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20 December 2019

language of work or name

English

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publication date

12 October 2006

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Journal of Investigative Dermatology

20 December 2019

published in

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20 December 2019

volume

127

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20 December 2019

issue

3

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page(s)

574-580

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https://scigraph.springernature.com/pub.10.1038/sj.jid.5700571

20 December 2019

exact match

0 references

cites work

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

The genetic basis of Weber-Cockayne epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Keratin 14 gene mutations in patients with epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Keratin 14 gene point mutation in the Köbner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

The prevalence of epidermolysis bullosa in Scotland

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

The clinical spectrum of epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

The clinical spectrum of dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

1 reference

7 January 2021

Keratins and skin disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Keratin 15 expression in stratified epithelia: downregulation in activated keratinocytes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700571

7 January 2021

Identifiers

DOI

10.1038/SJ.JID.5700571

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17039244%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

20 December 2019

0 references

1 reference