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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2007
Assuntos:
Research Article
Acesso em linha: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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