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Pseudoxanthoma Elasticum is a Metabolic Disease

Pseudoxanthoma elasticum (PXE) is a pleiotropic multisystem disorder affecting skin, eyes, and the cardiovascular system with progressive pathological mineralization. It is caused by mutations in the ABCC6 gene expressed primarily in the liver and kidneys, and at very low levels, if at all, in tissu...

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Detalhes bibliográficos
Main Authors: Jiang, Qiujie, Endoh, Masayuki, Dibra, Florian, Wang, Krystle, Uitto, Jouni
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3169309/
https://ncbi.nlm.nih.gov/pubmed/18685618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2008.212
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