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Human Mutation|October 18, 2006
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindnessStephen H Tsang, Michael L Woodruff, Lin Jun, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 18, 2002
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) geneJiangang Gao, Kyeongmi Cheon, Steven Nusinowitz, et al.
American Journal of Human Genetics|May 5, 2009
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in miceDavid A Parry, Carmel Toomes, Lina Bida, et al.
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