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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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Detalles Bibliográficos
Autores principales:	Weisschuh, Nicole, Mazzola, Pascale, Heinrich, Tilman, Haack, Tobias, Wissinger, Bernd, Tonagel, Felix, Kelbsch, Carina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
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

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