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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Détails bibliographiques
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2010
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Research Article
Accès en ligne: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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