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Schnyder corneal dystrophy.
Weiss JS. Weiss JS. Curr Opin Ophthalmol. 2009 Jul;20(4):292-8. doi: 10.1097/ICU.0b013e32832b753e. Curr Opin Ophthalmol. 2009. PMID: 19398911 Review.
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. PLoS One. 2010 May 21;5(5):e10760. doi: 10.1371/journal.pone.0010760. PLoS One. 2010. PMID: 20505825 Free PMC article.
Fine mapping of the Schnyder's crystalline corneal dystrophy locus.
Theendakara V, Tromp G, Kuivaniemi H, White PS, Panchal S, Cox J, Winters RS, Riebeling P, Tost F, Hoeltzenbein M, Tervo TM, Henn W, Denniger E, Krause M, Koksal M, Kargi S, Ugurbas SH, Latvala T, Shearman AM, Weiss JS. Theendakara V, et al. Hum Genet. 2004 May;114(6):594-600. doi: 10.1007/s00439-004-1110-1. Epub 2004 Mar 19. Hum Genet. 2004. PMID: 15034782