(Q81785625)

English

Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex

scientific article published on 14 August 2008

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

epidermolysis bullosa simplex

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Sarolta Kárpáti

9

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

author name string

Annamária Glász-Bóna

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Rachel Sajó

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Réka Lepesi-Benko

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Zsolt Tulassay

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Mária Katona

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Zsófia Hatvani

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Antal Blazsek

8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

language of work or name

0 references

publication date

14 August 2008

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Journal of Investigative Dermatology

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

129

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

229-231

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18704110%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

https://scigraph.springernature.com/pub.10.1038/jid.2008.223

0 references

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

Keratin 14 gene mutations in patients with epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

Exempting Homologous Pseudogene Sequences from Polymerase Chain Reaction Amplification Allows Genomic Keratin 14 Hotspot Mutation Analysis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

The Molecular Genetics of Keratin Disorders

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FJID.2008.223

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q81785625&oldid=1712029894"