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Article

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.

Journal of human genetics - 1 Feb 2010

Costrop Laura M F, Vanakker Olivier O M, Van Laer Lut, Le Saux Olivier, Martin Ludovic, Chassaing Nicolas, Guerra Deanna, Pasquali-Ronchetti Ivonne, Coucke Paul J, De Paepe Anne

Abstract excerpt

Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing alleles. This study wanted to assess the i...

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Source

Identifiers

PMID: 20075945
DOI: 10.1038/jhg.2009.132

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20075945-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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