title: A novel mutation in a case of dominant optic atrophy?
authors.forename: Hema L
authors.initials: HL
authors.lastname: Ramkumar
authors.affiliation: Department of Ophthalmology, Shiley Eye Center, University of California-San Diego, La Jolla, CA, USA.
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Savino
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D009900:Optic Nerve / Q000378:metabolism / Q000473:pathology; D041623:Tomography, Optical Coherence
chemical_list: D004247:DNA; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human