Article
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.
Human molecular genetics - 1 Sept 2004
Jacobson Samuel G, Sumaroka Alexander, Aleman Tomas S, Cideciyan Artur V, Schwartz Sharon B, Roman Alejandro J, McInnes Roderick R, Sheffield Val C, Stone Edwin M, Swaroop Anand, Wright Alan F
Abstract excerpt
Mutations in the nuclear receptor gene, NR2E3, cause a disorder of human retinal photoreceptor development characterized by hyperfunction and excess of the minority S (short wavelength or blue) cone photoreceptor type, but near absence of function of the majority rod receptor. NR2E3 disease can also progress to blindness. How the human retina accommodates mis-specified types and numbers of neurons and advances to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.