Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Schnyder crystalline corneal dystrophy (SCCD, MIM 121800) is a rare autosomal dominant disease characterized by progressive opacification of the cornea resulting from the local accumulation of lipids, and associated in some cases with systemic dyslipidemia. Although previous studies of the genetics...

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Bibliografiske detaljer
Main Authors: Orr, Andrew, Dubé, Marie-Pierre, Marcadier, Julien, Jiang, Haiyan, Federico, Antonio, George, Stanley, Seamone, Christopher, Andrews, David, Dubord, Paul, Holland, Simon, Provost, Sylvie, Mongrain, Vanessa, Evans, Susan, Higgins, Brent, Bowman, Sharen, Guernsey, Duane, Samuels, Mark
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2007
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1925147/
https://ncbi.nlm.nih.gov/pubmed/17668063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0000685
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