The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

PURPOSE: To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene. METHODS: Forty-one individuals of five families of Caribbean (family A), British (families B, D, E), and Italian (family...

書誌詳細
主要な著者:	Michaelides, M, Gaillard, M, Escher, P, Tiab, L, Bedell, M, Borruat, F, Barthelmes, D, Carmona, R, Zhang, K, White, E, McClements, M, Robson, A, Holder, G, Bradshaw, K, Hunt, D, Webster, A, Moore, A, Schorderet, D, Munier, F
フォーマット:	Journal article
言語:	English
出版事項:	2010

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