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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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Ringpfeil, Franziska, Lebwohl, Mark G., Christiano, Angela M., Uitto, Jouni
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 2000
Assuntos:	Biological Sciences
Acesso em linha:	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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