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Article

Analysis of MMP2 promoter polymorphisms in patients with pseudoxanthoma elasticum.

Clinica chimica acta; international journal of clinical chemistry - 9 Oct 2010

Zarbock Ralf, Hendig Doris, Szliska Christiane, Kleesiek Knut, Götting Christian

Abstract excerpt

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder predominantly affecting the skin, the eyes and the cardiovascular system. The disease is caused by mutations in the ABCC6 gene and characterized by ectopic calcification and extracellular matrix (ECM) alterations. Matrix metalloproteinases (MMPs) play a pivotal role in the process of ECM remodeling and are likely implied in PXE pathology....

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Source

Identifiers

PMID: 20541540
DOI: 10.1016/j.cca.2010.06.006

Genes

MMP2
ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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