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| Dominant Optic Atrophy Caused by the c.1334G>A Mutation of the OPA1 Gene |
| Yoon Seok Choi, Jun Ho Oh, Su-Kyeong Hwang, Bo Young Chun |
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J Korean Ophthalmol Soc. 2022;63(3):325-329. Published online March 15, 2022 DOI: https://doi.org/10.3341/jkos.2022.63.3.325 |
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Dominant Optic Atrophy Caused by the c.1334G>A Mutation of the OPA1 Gene Journal of the Korean Ophthalmological Society. 2022;63(3):325-329  Dominant Optic Atrophy plus phenotype caused by a deep intronic mutation and a modifier variant in the OPA1 gene Acta Ophthalmologica. 2015;93:n/a-n/a Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene Genetics in Medicine. 2006;8(1):59 0205 A novel OPA1 mutation in a family with autosomal dominant optic atrophy Journal of the Neurological Sciences. 2005;238:S152 Dominant Optic Atrophy Caused by a Novel <i>OPA1</i> Splice Site Mutation (IVS20+1G→A) Associated with Intron Retention Ophthalmic Research. 2005;37(4):214-224 Dominant Optic Atrophy, Neuropathy, Ataxia, White Matter FLAIR Hypersignals, Middle Cerebellar Peduncule Atrophy and Asthenia in OPA1 Mutation European Neurology. 2012;67(5):287-287 A Novel Mutation of the Type 1 Optic Atrophy (OPA1) Gene in a Japanese Family with OPA1 Japanese Journal of Ophthalmology. 2003;47(1):113-114 A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy Graefe's Archive for Clinical and Experimental Ophthalmology. 2007;245(10):1581-1583 A novel OPA1 mutation in a patient with severe, acute and late-onset Autosomal Dominant Optic Atrophy Acta Ophthalmologica. 2008;86:0-0 Dominant Optic Atrophy in a Japanese Family with Opa1 Frameshift Mutation (V942fsX966) European Journal of Ophthalmology. 2007;17(2):253-258 |
