UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy
UBIAD1 突变改变线粒体异戊烯基转移酶,导致 Schnyder 角膜营养不良
期刊:PLoS One
影响因子:2.9
doi:10.1371/journal.pone.0010760
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, Howar