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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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Main Authors: Jiang, Qiujie, Endoh, Masayuki, Dibra, Florian, Wang, Krystle, Uitto, Jouni
格式: Artigo
語言:Inglês
出版: 2008
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在線閱讀: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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