Associated Papers
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Xu X et al.
Molecular Genetics and Genomics : Mgg, 2021
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
Weisschuh N et al.
Plos One, 2021
Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.
Li JK et al.
Translational Vision Science & Technology, 2020
32855858 (PubMed )
Supplement: tvst-9-8-11_s002.pdf
Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.
Li H et al.
Ophthalmic Genetics, 2018
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