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Mutations in RPE65 cause Leber's congenital amaurosis

✍ Scribed by Marlhens, Françoise; Bareil, Corinne; Griffoin, Jean-Michel; Zrenner, Eberhart; Amalric, Pierre; Eliaou, Claudie; Liu, Su-Yan; Harris, Eddie; Redmond, T. Michael; Arnaud, Bernard


Book ID
109918323
Publisher
Nature Publishing Group
Year
1997
Tongue
English
Weight
459 KB
Volume
17
Category
Article
ISSN
1061-4036

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Leber congenital amaurosis (LCA) is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all retinal dystrophies. The RPE65 gene product is required for regeneration of the visual pigment for phototransduction. Defects in the RPE65 gene have s