(Q34306058)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7682883%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

title

A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7682883%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

main subject

epidermolysis bullosa

1 reference

6

1 reference

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23 October 2019

author name string

Humphries MM

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7682883%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Sheils DM

2

1 reference

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23 October 2019

Farrar GJ

3

1 reference

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23 October 2019

Kumar-Singh R

4

1 reference

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23 October 2019

Kenna PF

5

1 reference

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23 October 2019

Jordan SA

7

1 reference

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23 October 2019

Young M

8

1 reference

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23 October 2019

Humphries P

9

1 reference

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23 October 2019

publication date

1 January 1993

1 reference

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23 October 2019

1 reference

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23 October 2019

volume

2

1 reference

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23 October 2019

issue

1

1 reference

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23 October 2019

page(s)

37-42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7682883%20AND%20SRC:MED&resulttype=core&format=json

Mammalian epidermal keratin Isolation and characterization of the α-helical proteins from newborn rat

23 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

Keratins as biochemical markers of epithelial differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

Genetic linkage analysis of epidermolysis bullosa simplex, Köbner type

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

A group of type I keratin genes on human chromosome 17: characterization and expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

The polypeptide composition of bovine epidermal alpha-keratin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

The polypeptide composition of epidermal prekeratin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Analysis of RAS gene mutations in acute myeloid leukemia by polymerase chain reaction and oligonucleotide probes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Different intermediate-sized filaments distinguished by immunofluorescence microscopy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Identification and Characterization of Epithelial Cells in Mammalian Tissues by Immunofluorescence Microscopy Using Antibodies to Prekeratin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Protein complexes of intermediate-sized filaments: melting of cytokeratin complexes in urea reveals different polypeptide separation characteristics.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

The expression of keratin genes in epidermis and cultured epidermal cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Dinucleotide repeat polymorphism in the THRA1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Alu polymorphism in the human type I Keratin (KRT14) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Strategies for multilocus linkage analysis in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Remarkable conservation of structure among intermediate filament genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

The 50- and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: cell culture studies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

GPT--epidermolysis bullosa simplex (EBS Ogna) linkage in man

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Two type II keratin genes are localized on human chromosome 12.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

PCR detection of a COL1A1RsalRFLP

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Cultured epithelial cells of cornea, conjunctiva and skin: absence of marked intrinsic divergence of their differentiated states

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

PCR detection of a HindIII polymorphism in the human gene for type II procollagen (COL2A1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Localization of the gene for human simple epithelial keratin 18 to chromosome 12 using polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020107

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380020107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7682883%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference