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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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Detalles Bibliográficos
Main Authors: Uitto, Jouni, Li, Qiaoli, Jiang, Qiujie
Formato: Artigo
Idioma:Inglês
Publicado: 2009
Assuntos:
Acceso en liña: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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