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PubMed (GeneRIF) for id: 4117

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Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
van Huet RA, Siemiatkowska AM, Özgül RK, Yücel D, Hoyng CB, Banin E, Blumenfeld A, Rotenstreich Y, Riemslag FC, den Hollander AI, Theelen T, Collin RW, van den Born LI, Klevering BJ. van Huet RA, et al. Acta Ophthalmol. 2015 Feb;93(1):83-94. doi: 10.1111/aos.12500. Epub 2014 Nov 11. Acta Ophthalmol. 2015. PMID: 25385675 Free article.
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. 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.
15 results