Author:
Annear M J,Bartoe J T,Barker S E,Smith A J,Curran P G,Bainbridge J W,Ali R R,Petersen-Jones S M
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Molecular Medicine
Reference37 articles.
1. Stone EM . Leber congenital amaurosis—a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol 2007; 144: 791–811.
2. Gu SM, Thompson DA, Srikumari CR, Lorenz B, Finckh U, Nicoletti A et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet 1997; 17: 194–197.
3. Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C et al. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet 1997; 17: 139–141.
4. Veske A, Nilsson SE, Narfstrom K, Gal A . Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65. Genomics 1999; 57: 57–61.
5. Aguirre GD, Baldwin V, Pearce-Kelling S, Narfstrom K, Ray K, Acland GM . Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis 1998; 4: 23.
Cited by
62 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献