Leber congenital amaurosis: Genes, proteins and disease mechanisms

Anneke I. den Hollander(Radboud University Nijmegen), Ronald Roepman(Radboud University Nijmegen), Robert K. Koenekoop(McGill University Health Centre), Frans P.M. Cremers(Radboud University Medical Center)
Progress in Retinal and Eye Research
June 2, 2008
10.1016/j.preteyeres.2008.05.003
Cited by 820

Abstract

Related Papers

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
Andreas Gal, Yun Li, Debra A. Thompson et al.|Nature Genetics|2000|665
Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
Bech-Hansen Nt, Naylor Mj, Maybaum Ta et al.|Nature Genetics|1998|517
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
Melanie M. Sohocki, Sara J. Bowne, Lori S. Sullivan et al.|Nature Genetics|2000|290
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
Debra A. Thompson, P Gyürüs, L L Fleischer et al.|PubMed|2000|253
New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis
Mathias W. Seeliger, Christian Grimm, Fredrik Ståhlberg et al.|Nature Genetics|2001|238