Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene.
Huang
Taosheng
T
Whang
Jong Dae
JD
Kimonis
Virginia
V
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
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human