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Article

Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.

Journal of dermatological science - 1 Jun 2009

Ramsay Michèle, Greenberg Tarryn, Lombard Zane, Labrum Robyn, Lubbe Steven, Aron Shaun, Marais Anna-Susan, Terry Sharon, Bercovitch Lionel, Viljoen Denis

Abstract excerpt

BACKGROUND: Pseudoxanthoma elasticum (PXE) is an autosomal recessive metabolic disorder with ectopic mineralization in the skin, eyes and cardiovascular system. PXE is caused by mutations in ABCC6. OBJECTIVE: To examine 54 unrelated South African PXE patients for ABCC6 PXE causing mutations. METHODS: Patients were screened for mutations in ABCC6 using two strategies. The first involved a comprehensive screening...

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Source

Identifiers

PMID: 19339160
DOI: 10.1016/j.jdermsci.2009.02.008

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.PMID 19339160Read ↗

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