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Article

New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.

Journal of molecular medicine (Berlin, Germany) - 1 Feb 2005

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

Abstract excerpt

Pseudoxanthoma elasticum (PXE; OMIM 177850 and 264800) is a rare heritable disorder of the connective tissue affecting the extracellular matrix of the skin, eyes, gastrointestinal system, and cardiovascular system. It has recently been found that mutations in the ABCC6 gene encoding the multidrug...

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Source

Identifiers

PMID: 15723264
DOI: 10.1007/s00109-004-0588-2

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15723264-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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