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A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.
Jespersgaard C, Hey AB, Ilginis T, Hjortshøj TD, Fang M, Bertelsen M, Bech N, Jensen H, Larsen LJ, Tümer Z, Rosenberg T, Brøndum-Nielsen K, Møller LB, Grønskov K. Jespersgaard C, et al. Among authors: hjortshoj td. Invest Ophthalmol Vis Sci. 2020 Feb 7;61(2):29. doi: 10.1167/iovs.61.2.29. Invest Ophthalmol Vis Sci. 2020. PMID: 32084271 Free PMC article.
31 results