(Q53868523)

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8 January 2020

title

New ABCC6 gene mutations in German pseudoxanthoma elasticum patients (English)

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8 January 2020

1

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8 January 2020

author name string

Veronika Schulz

2

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8 January 2020

Jutta Eichgrün

3

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8 January 2020

Christiane Szliska

4

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8 January 2020

Christian Götting

5

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8 January 2020

Knut Kleesiek

6

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8 January 2020

publication date

10 November 2004

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Journal of Molecular Medicine

8 January 2020

published in

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8 January 2020

volume

83

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8 January 2020

issue

2

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8 January 2020

page(s)

140-147

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https://scigraph.springernature.com/pub.10.1007/s00109-004-0588-2

8 January 2020

exact match

0 references

cites work

MRP6 (ABCC6) detection in normal human tissues and tumors.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-004-0588-2

Mutations in ABCC6 cause pseudoxanthoma elasticum

21 January 2018

1 reference

12 December 2020

Novel ABCC6 mutations in pseudoxanthoma elasticum

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11

1 reference

12 December 2020

1 reference

12 December 2020

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

1 reference

12 December 2020

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

1 reference

12 December 2020

ABCC6 gene polymorphism associated with variation in plasma lipoproteins.

1 reference

12 December 2020

The pathology of angioid streaks: a study of twenty-one cases

1 reference

12 December 2020

Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells

1 reference

12 December 2020

Autosomal dominant pseudoxanthoma elasticum

1 reference

12 December 2020

Proof of "disease causing" mutation

1 reference

12 December 2020

Comparison of the functional characteristics of the nucleotide binding domains of multidrug resistance protein 1.

1 reference

12 December 2020

MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver

1 reference

12 December 2020

Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa

1 reference

12 December 2020

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

1 reference

12 December 2020

Allosteric interactions between the two non-equivalent nucleotide binding domains of multidrug resistance protein MRP1.

1 reference

12 December 2020

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.

1 reference

12 December 2020

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

12 December 2020

Heterozygous carriers of Pseudoxanthoma elasticum were not found among patients with cervical artery dissections.

1 reference

12 December 2020

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

1 reference

12 December 2020

Transport function and hepatocellular localization of mrp6 in rat liver

1 reference

12 December 2020

Pseudoxanthoma elasticum

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Classification of pseudoxanthoma elasticum: report of a consensus conference

1 reference

12 December 2020

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

1 reference

12 December 2020

Sudden cardiac death owing to pseudoxanthoma elasticum: a case report

1 reference

12 December 2020

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

1 reference

12 December 2020

Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00109-004-0588-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15723264%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

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