In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations.
Cideciyan
A V
AV
Scheie Eye Institute, University of Pennsylvania, Philadelphia 19104, USA.
D004596:Electroretinography; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D008562:Membrane Glycoproteins; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D064531:Peripherins; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology*; D012164:Retinal Diseases / Q000235:genetics; D012243:Rhodopsin / Q000235:genetics; D015398:Signal Transduction
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D064531:Peripherins; D012243:Rhodopsin