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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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Autores principales: Jiang, Qiujie, Endoh, Masayuki, Dibra, Florian, Wang, Krystle, Uitto, Jouni
Formato: Artigo
Lenguaje:Inglês
Publicado: 2008
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Acceso en línea: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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