Characterization of SSBP1-related optic atrophy and foveopathy

Dominant optic atrophy (DOA) is genetically heterogeneous and most commonly caused by mutations in OPA1. To distinguish between the classical OPA1-related and the recently identified SSBP1-related DOAs, the retina and fovea of 27 patients carrying the SSBP1 p.Arg38Gln variant were scrutinized using...

Descripción completa

Detalles Bibliográficos
Autores principales: Meunier, Isabelle, Bocquet, Béatrice, Defoort-Dhellemmes, Sabine, Smirnov, Vasily, Arndt, Carl, Picot, Marie Christine, Dollfus, Hélène, Charif, Majida, Audo, Isabelle, Huguet, Hélèna, Zanlonghi, Xavier, Lenaers, Guy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8455542/
https://www.ncbi.nlm.nih.gov/pubmed/34548540
http://dx.doi.org/10.1038/s41598-021-98150-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8455542/
https://www.ncbi.nlm.nih.gov/pubmed/34548540
http://dx.doi.org/10.1038/s41598-021-98150-1

Ejemplares similares