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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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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | 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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