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Association assessment of copy number polymorphism and risk of age-related macular degeneration.
Ophthalmology. 2011 Dec;118(12):2442-6. doi: 10.1016/j.ophtha.2011.05.027.
Ophthalmology. 2011.
PMID: 21856016
Free PMC article.
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
Nickerson ML, Kostiha BN, Brandt W, Fredericks W, Xu KP, Yu FS, Gold B, Chodosh J, Goldberg M, Lu DW, Yamada M, Tervo TM, Grutzmacher R, Croasdale C, Hoeltzenbein M, Sutphin J, Malkowicz SB, Wessjohann L, Kruth HS, Dean M, Weiss JS.
Nickerson ML, et al. Among authors: kostiha bn.
PLoS One. 2010 May 21;5(5):e10760. doi: 10.1371/journal.pone.0010760.
PLoS One. 2010.
PMID: 20505825
Free PMC article.
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The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.
Nickerson ML, Bosley AD, Weiss JS, Kostiha BN, Hirota Y, Brandt W, Esposito D, Kinoshita S, Wessjohann L, Morham SG, Andresson T, Kruth HS, Okano T, Dean M.
Nickerson ML, et al. Among authors: kostiha bn.
Hum Mutat. 2013 Feb;34(2):317-29. doi: 10.1002/humu.22230. Epub 2012 Nov 27.
Hum Mutat. 2013.
PMID: 23169578
Free PMC article.
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