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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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2010
Konular:
Research Article
Online Erişim: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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