(Q54741653)

English

Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients. (English)

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

author name string

Christian Götting

1

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

Veronika Schulz

2

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

Doris Hendig

3

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

Alexander Grundt

4

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

Jens Dreier

5

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

Christiane Szliska

6

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

Thomas Brinkmann

7

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

Knut Kleesiek

8

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

publication date

1 January 2004

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

Laboratory Investigation

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

84

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

1

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

122-130

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

https://scigraph.springernature.com/pub.10.1038/labinvest.3700004

0 references

International Centennial Meeting on Pseudoxanthoma Elasticum: progress in PXE research.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

ABCC6 gene polymorphism associated with variation in plasma lipoproteins.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Mutations in ABCC6 cause pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Classification of pseudoxanthoma elasticum: report of a consensus conference

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Crystal structure of the ATP-binding subunit of an ABC transporter

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Structural biology of Rad50 ATPase: ATP-driven conformational control in DNA double-strand break repair and the ABC-ATPase superfamily

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Crystal structure of MalK, the ATPase subunit of the trehalose/maltose ABC transporter of the archaeon Thermococcus litoralis

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Compressibility of the carotid artery in patients with pseudoxanthoma elasticum.

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

21 January 2018

Pseudoxanthoma elasticum

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

7 January 2021

based on heuristic

inferred from DOI database lookup

Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

7 January 2021

based on heuristic

inferred from DOI database lookup

Pseudoxanthoma elasticum and mitral-valve prolapse

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

7 January 2021

based on heuristic

inferred from DOI database lookup

Transport function and hepatocellular localization of mrp6 in rat liver

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

7 January 2021

based on heuristic

inferred from DOI database lookup

Sudden cardiac death owing to pseudoxanthoma elasticum: a case report

1 reference

https://api.crossref.org/works/10.1038%2FLABINVEST.3700004

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/LABINVEST.3700004

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/14631379

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=Q54741653&oldid=1456769305"