Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families

Autosomal Dominant Optic Atrophy (ADOA) is characterized by the selective degeneration of retinal ganglion cells. The occurrence of mutations in the gene encoding the dynamin-like GTPase protein Optic Atrophy 1 (OPA1) has been observed in about 60–70% of ADOA cases. A subset of missense mutations, m...

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Détails bibliographiques
Auteurs principaux: Ranieri, Michela, Del Bo, Roberto, Bordoni, Andreina, Ronchi, Dario, Colombo, Irene, Riboldi, Giulietta, Cosi, Alessandra, Servida, Maura, Magri, Francesca, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo P., Corti, Stefania
Format: Artigo
Langue:Inglês
Publié: Elsevier 2012
Sujets:
Short Communication
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3315002/
https://ncbi.nlm.nih.gov/pubmed/22197506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2011.12.002
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