OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

BACKGROUND: The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 (https://www.lovd.nl/OPA1), created in 2005, has now evolved towards a centra...

Descripción completa

Detalles Bibliográficos
Autores principales: Le Roux, Bastien, Lenaers, Guy, Zanlonghi, Xavier, Amati-Bonneau, Patrizia, Chabrun, Floris, Foulonneau, Thomas, Caignard, Angélique, Leruez, Stéphanie, Gohier, Philippe, Procaccio, Vincent, Milea, Dan, den Dunnen, Johan T., Reynier, Pascal, Ferré, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6734442/
https://www.ncbi.nlm.nih.gov/pubmed/31500643
http://dx.doi.org/10.1186/s13023-019-1187-1

Ejemplares similares

Ejemplares similares