Article
Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology.
Experimental eye research - 1 Mar 2013
Collery Ross F, Cederlund Maria L, Kennedy Breandán N
Abstract excerpt
Cone-rod dystrophy 6 (CORD6) is an inherited blindness that presents with defective cone photoreceptor function in childhood, followed by loss of rod function. CORD6 results from mutations in GUCY2D, the human gene encoding retinal guanylate cyclase 1 (RETGC-1). RETGC-1 functions in phototransduction, synthesising cGMP to open ion channels in photoreceptor outer segments. As there is limited histopathological...
Topics
Join the communities discussing this publication.
