Downs, Louise M <br/><br/>
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 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddw254  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Calmodulin-Binding Proteins--genetics<br/>Cilia--genetics<br/>Disease Models, Animal<br/>Dogs<br/>Humans<br/>Leber Congenital Amaurosis--genetics<br/>Mutation<br/>Photoreceptor Cells--metabolism<br/>Retina--pathology<br/>Retinal Cone Photoreceptor Cells--metabolism<br/>Retinal Rod Photoreceptor Cells--metabolism