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Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis

✍ Scribed by Quansheng Xi; Gayle J.T. Pauer; Elias I. Traboulsi; Stephanie A. Hagstrom


Book ID
116456431
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
93 KB
Volume
83
Category
Article
ISSN
0014-4835

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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