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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主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2010
主題:
Research Article
オンライン･アクセス: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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