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Article

Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients.

Human mutation - 1 Oct 2007

Chassaing Nicolas, Martin Ludovic, Bourthoumieu Sylvie, Calvas Patrick, Hovnanian Alain

Abstract excerpt

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder of connective tissues, which manifests with cutaneous, ophthalmologic and cardiovascular findings. PXE is caused by mutations in ABCC6 encoding a multidrug resistance protein (ABCC6, also known as MRP6). ABCC6 mutation detection rate ranges from 55% to 97% and it has been suggested that some of the remaining unidentified mutant alleles could...

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Identifiers

PMID: 17823974
DOI: 10.1002/humu.9509

Genes

ABCC6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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