Article
Non-syndromic retinal ciliopathies: translating gene discovery into therapy.
Human molecular genetics - 15 Oct 2012
Estrada-Cuzcano Alejandro, Roepman Ronald, Cremers Frans P M, den Hollander Anneke I, Mans Dorus A
Abstract excerpt
Homozygosity mapping and exome sequencing have accelerated the discovery of gene mutations and modifier alleles implicated in inherited retinal degeneration in humans. To date, 158 genes have been found to be mutated in individuals with retinal dystrophies. Approximately one-third of the gene defects underlying retinal degeneration affect the structure and/or function of the 'connecting cilium' in photoreceptors....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.