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...

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Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: BioMed Central 2019
Assuntos:
Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6734442/
https://ncbi.nlm.nih.gov/pubmed/31500643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1187-1
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