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Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

✍ Scribed by Hui Wang; Anneke I. den Hollander; Yalda Moayedi; Abuduaini Abulimiti; Yumei Li; Rob W.J. Collin; Carel B. Hoyng; Irma Lopez; Molly Bray; Richard Alan Lewis; James R. Lupski; Graeme Mardon; Robert K. Koenekoop; Rui Chen


Book ID
113422614
Publisher
American Society of Human Genetics
Year
2009
Tongue
English
Weight
610 KB
Volume
84
Category
Article
ISSN
0002-9297

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Spectrum of SPATA7 mutations in Leber co
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Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration. It may present as a congenital stationary cone-rod dystrophy (LCA type I) or a progressive yet severe rod-cone dystrophy (LCA type II). Twelve LCA genes have been identified, three of which account for Type I and