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Article

Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum.

Human biology - 1 Jun 2005

Schulz Veronika, Hendig Doris, Szliska Christiane, Götting Christian, Kleesiek Knut

Abstract excerpt

Pseudoxanthoma elasticum (PXE) is a heritable disorder of the connective tissue affecting the skin, eyes, and cardiovascular system. Recently, the PXE candidate gene ABCC6 was identified and a limited number of ABCC6 mutations were observed in different PXE cohorts. To identify novel PXE-causing ABCC6 mutations in German patients with PXE, we investigated a cohort of 54 German PXE patients and 23 family members...

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Source

Identifiers

PMID: 16392638
DOI: 10.1353/hub.2005.0054

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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