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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Dades bibliogràfiques

Publicat a:	Proc Natl Acad Sci U S A
Autors principals:	Ringpfeil, Franziska, Lebwohl, Mark G., Christiano, Angela M., Uitto, Jouni
Format:	Artigo
Idioma:	Inglês
Publicat:	National Academy of Sciences 2000
Matèries:	Biological Sciences
Accés en línia:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC18548/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10811882/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.100041297
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