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A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
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.
Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa.
Kiser K, Webb-Jones KD, Bowne SJ, Sullivan LS, Daiger SP, Birch DG.
Kiser K, et al. Among authors: webb jones kd.
Am J Ophthalmol. 2019 Apr;200:76-84. doi: 10.1016/j.ajo.2018.12.009. Epub 2018 Dec 21.
Am J Ophthalmol. 2019.
PMID: 30582903
Free PMC article.
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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
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