(Q34211913)

31 July 2017

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q (English)

1 reference

epidermolytic hyperkeratosis

23 November 2023

main subject

1 reference

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284546

23 November 2023

1 reference

23 November 2023

2

DiGiovanna JJ

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284546

23 November 2023

author name string

Compton JG

1

1 reference

31 July 2017

Santucci SK

3

1 reference

31 July 2017

Kearns KS

4

1 reference

31 July 2017

Amos CI

5

1 reference

31 July 2017

Abangan DL

6

1 reference

31 July 2017

Korge BP

7

1 reference

31 July 2017

McBride OW

8

1 reference

31 July 2017

Steinert PM

9

1 reference

31 July 2017

Bale SJ

10

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 July 1992

1 reference

full work available at URL

31 July 2017

http://www.nature.com/articles/ng0792-301

1 reference

http://www.nature.com/articles/ng0792-301.pdf

23 November 2023

file format

Portable Document Format

1 reference

23 November 2023

1 reference

31 July 2017

1

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31 July 2017

301-305

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31 July 2017

4

1 reference

https://scigraph.springernature.com/pub.10.1038/ng0792-301

31 July 2017

0 references

cites work

The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

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/10.1038%2FNG0792-301

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/10.1038%2FNG0792-301

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

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/10.1038%2FNG0792-301

7 January 2021

Structure of a gene for the human epidermal 67-kDa keratin

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Organization, structure, and polymorphisms of the human profilaggrin gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

A primary genetic linkage map for human chromosome 12.

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1)

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Chromosomal mapping of human keratin genes: evidence of non-linkage

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Chromosomal assignments of human type I and type II cytokeratin genes to different chromosomes.

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Subchromosomal localization of two human cytokeratin genes (KRT4 and KRT15) by in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Differentially expressed bovine cytokeratin genes. Analysis of gene linkage and evolutionary conservation of 5'-upstream sequences.

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Comparative map for mice and humans

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Studies on the pathogenesis of epidermolysis bullosa.

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Isolation and mapping of a polymorphic DNA sequence pEFD33.2 on chromosome 12 [D12S14]

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Isolation and mapping of a polymorphic DNA sequence pYNH15 on chromosome 12q [D12S17]

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Strategies for multilocus linkage analysis in humans

1 reference

https://api.crossref.org/works/10.1038%2FNG0792-301

7 January 2021

Journal of Investigative Dermatology

30

98

397

T Hoyheim

1992

1 reference

23 November 2023

Identifiers

DOI

10.1038/NG0792-301

1 reference

31 July 2017

1 reference