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pro vyhledávání: '"John Sutphin"'
Autor:
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
Publikováno v:
PLoS ONE, Vol 5, Iss 5, p e10760 (2010)
BackgroundMutations 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
Externí odkaz:
https://doaj.org/article/030ce6da40104352a999834bebc9e757
