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A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH, Cadena E, Avery CE, Lewis RA, Webb-Jones K, Wheaton DH, Birch DG, Coussa R, Ren H, Lopez I, Chakarova C, Koenekoop RK, Garcia CA, Fulton RS, Wilson RK, Weinstock GM, Daiger SP. Sullivan LS, et al. Among authors: webb jones k. Invest Ophthalmol Vis Sci. 2014 Sep 4;55(11):7147-58. doi: 10.1167/iovs.14-15419. Invest Ophthalmol Vis Sci. 2014. PMID: 25190649 Free PMC article.
Single-base substitutions in the CHM promoter as a cause of choroideremia.
Radziwon A, Arno G, K Wheaton D, McDonagh EM, Baple EL, Webb-Jones K, G Birch D, Webster AR, MacDonald IM. Radziwon A, et al. Among authors: webb jones k. Hum Mutat. 2017 Jun;38(6):704-715. doi: 10.1002/humu.23212. Epub 2017 Mar 24. Hum Mutat. 2017. PMID: 28271586