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First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report
BACKGROUND: Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells and their axons that form the optic nerve. Approximately 45–90% of affected individuals with DOA har...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690134/ https://www.ncbi.nlm.nih.gov/pubmed/33243194 http://dx.doi.org/10.1186/s12881-020-01166-z |