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