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Article

The ABCC6 Transporter: A New Player in Biomineralization.

International journal of molecular sciences - 11 Sept 2017

Favre Guillaume, Laurain Audrey, Aranyi Tamas, Szeri Flora, Fulop Krisztina, Le Saux Olivier, Duranton Christophe, Kauffenstein Gilles, Martin Ludovic, Lefthériotis Georges

Abstract excerpt

Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. Since the first description of the disease in 1896, alleging a disease involving the elastic fibers, the concept evolved with the further discoveries of the pivotal role of ectopic mineralization that is preponderant in the elastin-rich tissues of the skin, eyes and blood...

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Topics

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Share to ABCC1 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28891970
DOI: 10.3390/ijms18091941
PMCID: PMC5618590

Genes

ABCC6
ABCC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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