UBIAD1 Mutation Alters a Mitochondrial Prenyltransferase to Cause Schnyder Corneal Dystrophy

BACKGROUND: Mutations in a novel gene, UBIAD1, were recently found to cause the autosomal dominant eye disease Schnyder corneal dystrophy (SCD). SCD is characterized by an abnormal deposition of cholesterol and phospholipids in the cornea resulting in progressive corneal opacification and visual los...

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Autores principales: Nickerson, Michael L., Kostiha, Brittany N., Brandt, Wolfgang, Fredericks, William, Xu, Ke-Ping, Yu, Fu-Shin, Gold, Bert, Chodosh, James, Goldberg, Marc, Lu, Da Wen, Yamada, Masakazu, Tervo, Timo M., Grutzmacher, Richard, Croasdale, Chris, Hoeltzenbein, Maria, Sutphin, John, Malkowicz, S. Bruce, Wessjohann, Ludger, Kruth, Howard S., Dean, Michael, Weiss, Jayne S.
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2874009/
https://ncbi.nlm.nih.gov/pubmed/20505825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0010760
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