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Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis

✍ Scribed by Yzer, Suzanne ;Leroy, Bart P. ;De Baere, Elfride ;de Ravel, Thomy J. ;Zonneveld, Marijke N. ;Voesenek, Krysta ;Kellner, Ulrich ;Ciriano, Jose P. Martinez ;de Faber, Jan-Tjeerd H. N. ;Rohrschneider, Klaus ;Roepman, Ronald ;den Hollander, Anneke I. ;Cruysberg, Johannes R. ;Meire, Franc¸oise ;Casteels, Ingele ;van Moll-Ramirez, Norka G. ;Allikmets, Rando ;van den Born, L. Ingeborgh ;Cremers, Frans P. M.


Book ID
125512038
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Year
2006
Weight
464 KB
Volume
47
Category
Article
ISSN
1552-5783

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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