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Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report
Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease of motor neurons. Most ALS cases are considered sporadic due to the presence of a combination of environmental and complex genetic risk factors, while approximately 10% of cases have a family history. Pathogenic va...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10485270/ https://www.ncbi.nlm.nih.gov/pubmed/37693322 http://dx.doi.org/10.3389/fgene.2023.1208673 |