Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status

PURPOSE: Inherited optic neuropathy is genetically heterogeneous, and genetic testing has an important role in risk assessment and counseling. The purpose of this study is to determine the prevalence and spectrum of mutations in a group of patients referred for genetic testing to a tertiary center i...

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Detalles Bibliográficos
Autores principales: Gaier, Eric D., Boudreault, Katherine, Nakata, Isao, Janessian, Maria, Skidd, Philip, DelBono, Elizabeth, Allen, Keri F., Pasquale, Louis R., Place, Emily, Cestari, Dean M., Stacy, Rebecca C., Rizzo, Joseph F., Wiggs, Janey L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5561143/
https://www.ncbi.nlm.nih.gov/pubmed/28848318

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