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
NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.
D'Angelo L et al.
Cell Reports, 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
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.
Kloth K et al.
Bmc Medical Genetics, 2019
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