title: Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene.
authors.forename: Taosheng
authors.initials: T
authors.lastname: Huang
authors.forename: Jong Dae
authors.initials: JD
authors.lastname: Whang
authors.forename: Virginia
authors.initials: V
authors.lastname: Kimonis
mesh_terms: D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant; D012737:Sex Factors
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human