title: A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy.
authors: a Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan.
authors: Kie
authors: K
authors: Iida
authors: a Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan.
authors: Yasuhiro
authors: Y
authors: Ohkuma
authors: a Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan.
authors: Takaaki
authors: T
authors: Hayashi
authors: a Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan.
authors: Satoshi
authors: S
authors: Katagiri
authors: b Department of Ophthalmology , Kanagawa Children's Medical Center , Yokohama , Japan.
authors: Takeshi
authors: T
authors: Fujita
authors: c Laboratory of Visual Physiology, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center , Tokyo , Japan.
authors: Kazushige
authors: K
authors: Tsunoda
authors: d Research Center for Medical Science, Core Research Facilities for Basic Science (Molecular Genetics), The Jikei University School of Medicine , Tokyo , Japan.
authors: Hisashi
authors: H
authors: Yamada
authors: a Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan.
authors: Hiroshi
authors: H
authors: Tsuneoka
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology
chemical_list: D022821:RNA Splice Sites; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human