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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Texto
Lenguaje:English
Publicado: Public Library of Science 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1925147/
https://www.ncbi.nlm.nih.gov/pubmed/17668063
http://dx.doi.org/10.1371/journal.pone.0000685

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1925147/
https://www.ncbi.nlm.nih.gov/pubmed/17668063
http://dx.doi.org/10.1371/journal.pone.0000685

Ejemplares similares