A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation

Amyotrophic lateral sclerosis (ALS) is a progressive and fatal disorder characterized by degeneration of motor neurons in the cerebral cortex, brain stem, and spinal cord. Most cases of ALS appear sporadically, but 5–10% of patients have a family history of disease. Mutations in the superoxide dismu...

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Detalles Bibliográficos
Autores principales: Ricci, Claudia, Giannini, Fabio, Riolo, Giulia, Bocci, Silvia, Casali, Stefania, Battistini, Stefania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535540/
https://www.ncbi.nlm.nih.gov/pubmed/34680939
http://dx.doi.org/10.3390/genes12101544

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535540/
https://www.ncbi.nlm.nih.gov/pubmed/34680939
http://dx.doi.org/10.3390/genes12101544

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