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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 ra...

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Source

Identifiers

PMID: 17823974
DOI: 10.1002/humu.9509

Genes

ABCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17823974-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

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

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