Associated Papers
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.
Weisschuh N et al.
Human Molecular Genetics, 2022
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
A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family.
Mei S et al.
Journal of Ophthalmology, 2019
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