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weber congenital amaurosis 9
- ... Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can J Ophthalmol. 2000 Jun;35(4):204-13. doi: 10.1016/s0008-4182(00)80031-9. Citation on PubMed Jacobi FK, Andreasson S, Langrova ...
- ... G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Ruther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet. 1998 Jul;19(3):260-3. ...