Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.
Downs, Louise M
Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. [electronic resource] - Human molecular genetics 10 2016 - 4211-4226 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
1460-2083
10.1093/hmg/ddw254 doi
Animals
Calmodulin-Binding Proteins--genetics
Cilia--genetics
Disease Models, Animal
Dogs
Humans
Leber Congenital Amaurosis--genetics
Mutation
Photoreceptor Cells--metabolism
Retina--pathology
Retinal Cone Photoreceptor Cells--metabolism
Retinal Rod Photoreceptor Cells--metabolism
Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. [electronic resource] - Human molecular genetics 10 2016 - 4211-4226 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
1460-2083
10.1093/hmg/ddw254 doi
Animals
Calmodulin-Binding Proteins--genetics
Cilia--genetics
Disease Models, Animal
Dogs
Humans
Leber Congenital Amaurosis--genetics
Mutation
Photoreceptor Cells--metabolism
Retina--pathology
Retinal Cone Photoreceptor Cells--metabolism
Retinal Rod Photoreceptor Cells--metabolism