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Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.
Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S, Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H, Miyake Y, Iwata T, Tsunoda K. Fujinami K, et al. Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4837-46. doi: 10.1167/iovs.16-19670. Invest Ophthalmol Vis Sci. 2016. PMID: 27623337
Molecular diagnostics for retinitis pigmentosa.
Yeung KY, Baum L, Chan WM, Lam DS, Kwok AK, Pang CP. Yeung KY, et al. Clin Chim Acta. 2001 Nov;313(1-2):209-15. doi: 10.1016/s0009-8981(01)00674-x. Clin Chim Acta. 2001. PMID: 11694261