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Effects of mutations and deletions in the human optineurin gene

Optineurin is a gene associated with normal tension glaucoma (NTG) and amyotrophic lateral sclerosis (ALS). Foci formation and functional consequences including Golgi fragmentation, impairment of vesicle trafficking and apoptosis were observed previously upon overexpression and/or mutation of optine...

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Detalles Bibliográficos
Autores principales: Turturro, Sanja, Shen, Xiang, Shyam, Rajalekshmy, Yue, Beatrice YJT, Ying, Hongyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3967732/
https://www.ncbi.nlm.nih.gov/pubmed/24683533
http://dx.doi.org/10.1186/2193-1801-3-99