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Pseudoxanthoma Elasticum – Molecular Genetics and Putative Pathomechanisms

Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement and cardiovascular problems, with considerable morbidity and mortality. The classic forms of PXE are due to loss-of-function mutations in the A...

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Bibliografski detalji
Glavni autori: Uitto, Jouni, Li, Qiaoli, Jiang, Qiujie
Format: Artigo
Jezik:Inglês
Izdano: 2009
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3349438/
https://ncbi.nlm.nih.gov/pubmed/20032990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2009.411
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