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Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.
El Matri L, Ambresin A, Schorderet DF, Kawasaki A, Seeliger MW, Wenzel A, Arsenijevic Y, Borruat FX, Munier FL. El Matri L, et al. Among authors: ambresin a. Graefes Arch Clin Exp Ophthalmol. 2006 Sep;244(9):1104-12. doi: 10.1007/s00417-005-0096-2. Epub 2006 Feb 28. Graefes Arch Clin Exp Ophthalmol. 2006. PMID: 16518657
131 results