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Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.
Stone EM, Luo X, Héon E, Lam BL, Weleber RG, Halder JA, Affatigato LM, Goldberg JB, Sumaroka A, Schwartz SB, Cideciyan AV, Jacobson SG. Stone EM, et al. Among authors: weleber rg. Invest Ophthalmol Vis Sci. 2011 Dec 28;52(13):9665-73. doi: 10.1167/iovs.11-8527. Invest Ophthalmol Vis Sci. 2011. PMID: 22110072 Free PMC article.
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy.
Weleber RG, Pennesi ME, Wilson DJ, Kaushal S, Erker LR, Jensen L, McBride MT, Flotte TR, Humphries M, Calcedo R, Hauswirth WW, Chulay JD, Stout JT. Weleber RG, et al. Ophthalmology. 2016 Jul;123(7):1606-20. doi: 10.1016/j.ophtha.2016.03.003. Epub 2016 Apr 19. Ophthalmology. 2016. PMID: 27102010 Free article. Clinical Trial.
Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Héon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, Sheffield VC, Stone EM. Lotery AJ, et al. Among authors: weleber rg. Arch Ophthalmol. 2000 Apr;118(4):538-43. doi: 10.1001/archopht.118.4.538. Arch Ophthalmol. 2000. PMID: 10766140
247 results