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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...
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| Опубликовано в: : | BMC Med Genet |
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| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2020
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7690134/ https://ncbi.nlm.nih.gov/pubmed/33243194 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01166-z |
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