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SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo
Amyotrophic lateral sclerosis (ALS) is frequently caused by mutations in the SOD1 gene. Here, we report the first SOD1 variant in Malta, an archipelago of three inhabited islands in southern Europe. We describe a patient with a sporadic form of ALS living on the island of Gozo in which the heterozyg...
Autores principales: | Farrugia Wismayer, Maia, Farrugia Wismayer, Andrew, Pace, Adrian, Vassallo, Neville, Cauchi, Ruben J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259738/ https://www.ncbi.nlm.nih.gov/pubmed/34616013 http://dx.doi.org/10.1038/s41431-021-00975-x |
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