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RP1 protein truncating mutations predominate at the RP1 adRP locus.
Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermani S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS. Payne A, et al. Among authors: bhattacharya ss. Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4069-73. Invest Ophthalmol Vis Sci. 2000. PMID: 11095597
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH. Dharmaraj S, et al. Among authors: bhattacharya ss. Arch Ophthalmol. 2004 Jul;122(7):1029-37. doi: 10.1001/archopht.122.7.1029. Arch Ophthalmol. 2004. PMID: 15249368
Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, Bhattacharya SS. Hardcastle AJ, et al. Among authors: bhattacharya ss. Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2080-6. Invest Ophthalmol Vis Sci. 2000. PMID: 10892847
439 results