Pseudoxanthoma elasticum: Clinical phenotypes, molecular genetics and putative pathomechanisms

Pseudoxanthoma elasticum (PXE), a prototype of heritable multi-system disorders, is characterized by pathologic mineralization of connective tissues, with primary clinical manifestations in the skin, eyes and the cardiovascular system. The causative gene was initially identified as ABCC6 which encod...

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Detaylı Bibliyografya
Asıl Yazarlar: Li, Qiaoli, Jiang, Qiujie, Pfendner, Ellen, Váradi, András, Uitto, Jouni
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2008
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3349969/
https://ncbi.nlm.nih.gov/pubmed/19054062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1600-0625.2008.00795.x
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