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Analysis of three genes in Leber congenital amaurosis in Indonesian patients

✍ Scribed by Rita S. Sitorus; Birgit Lorenz; Markus N. Preising


Book ID
116968880
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
332 KB
Volume
43
Category
Article
ISSN
0042-6989

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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