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Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

Pseudoxanthoma elasticum (PXE), the prototypic heritable connective tissue disorder affecting the elastic structures in the body, manifests with cutaneous, ophthalmologic, and cardiovascular findings, with considerable morbidity and mortality. The molecular basis of PXE has remained unknown, but the...

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Détails bibliographiques
Auteurs principaux: Ringpfeil, Franziska, Lebwohl, Mark G., Christiano, Angela M., Uitto, Jouni
Format: Artigo
Langue:Inglês
Publié: The National Academy of Sciences 2000
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC18548/
https://ncbi.nlm.nih.gov/pubmed/10811882
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