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Article

Novel ABCC6 mutations in pseudoxanthoma elasticum.

The Journal of investigative dermatology - 1 Mar 2004

Chassaing Nicolas, Martin Ludovic, Mazereeuw Juliette, Barrié Laurence, Nizard Sonia, Bonafé Jean-Louis, Calvas Patrick, Hovnanian Alain

Abstract excerpt

Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder caused by mutations in an ABC (ATP-Binding Cassette) transporter gene (ABCC6), which manifests with cutaneous, ophthalmologic, and cardiovascular findings. We studied a cohort of 19 families with PXE, and identified 16 different mutations, nine of which were novel variants. The mutation detection rate was about 77%. We found that arginine...

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Source

Identifiers

PMID: 15086542
DOI: 10.1111/j.0022-202X.2004.22312.x

Genes

ABCC6

Provenance

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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