UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

<h4>Background</h4>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 opacifica...

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Autores principales: Michael L Nickerson, Brittany N Kostiha, Wolfgang Brandt, William Fredericks, Ke-Ping Xu, Fu-Shin Yu, Bert Gold, James Chodosh, Marc Goldberg, Da Wen Lu, Masakazu Yamada, Timo M Tervo, Richard Grutzmacher, Chris Croasdale, Maria Hoeltzenbein, John Sutphin, S Bruce Malkowicz, Ludger Wessjohann, Howard S Kruth, Michael Dean, Jayne S Weiss
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2010
Materias:
Medicine
R
Science
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Acceso en línea:https://doaj.org/article/030ce6da40104352a999834bebc9e757
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