Article
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
Human molecular genetics - 1 Apr 2011
Cideciyan Artur V, Rachel Rivka A, Aleman Tomas S, Swider Malgorzata, Schwartz Sharon B, Sumaroka Alexander, Roman Alejandro J, Stone Edwin M, Jacobson Samuel G, Swaroop Anand
Abstract excerpt
Leber congenital amaurosis (LCA), a severe autosomal recessive childhood blindness, is caused by mutations in at least 15 genes. The most common molecular form is a ciliopathy due to NPHP6 (CEP290) mutations and subjects have profound loss of vision. A similarly severe phenotype occurs in the rel...
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