Novel Mutations in the OPA1 Gene and Associated Clinical Features in Japanese Patients with Optic Atrophy
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference33 articles.
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4. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1);Brown;Arch Ophthalmol,1997
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1. Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype–phenotype correlation analysis;BMC Ophthalmology;2022-07-26
2. Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy;Translational Vision Science & Technology;2020-07-08
3. Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy;Mitochondrion;2019-05
4. Visual Loss;Liu, Volpe, and Galetta's Neuro-Ophthalmology;2019
5. Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2018-10
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