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Köhn L, Burstedt MS, Jonsson F, Kadzhaev K, Haamer E, Sandgren O, Golovleva I. Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1. Invest Ophthalmol Vis Sci. 2008 Jul;49(7):3172–7. doi: 10.1167/iovs.07-1664. PMID: 18344446. |