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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2007
Pynciau:
Research Article
Mynediad Ar-lein: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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