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Article

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

Nature genetics - 1 Jun 2000

Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope F M, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd C D

Abstract excerpt

Pseudoxanthoma elasticum (PXE) is a heritable disorder characterized by calcification of elastic fibres in skin, arteries and retina that results in dermal lesions with associated laxity and loss of elasticity, arterial insufficiency and retinal haemorrhages leading to macular degeneration. PXE i...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10835642
DOI: 10.1038/76102

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10835642-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.PMID 10835642Read ↗

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Novel ABCC6 mutations in pseudoxanthoma elasticum.Semantic proximity Read ↗

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.Semantic proximity Read ↗

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A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.Semantic proximity Read ↗

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