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De novo mutations in SOD1 are a cause of ALS
OBJECTIVE: The only identified cause of amyotrophic lateral sclerosis (ALS) are mutations in a number of genes found in familial cases but also in sporadic cases. De novo mutations occurring in a parental gonadal cell, in the zygote or postzygotic during embryonal development can result in an appare...
Autores principales: | Müller, Kathrin, Oh, Ki-Wook, Nordin, Angelica, Panthi, Sudhan, Kim, Seung Hyun, Nordin, Frida, Freischmidt, Axel, Ludolph, Albert C, Ki, Chang Seok, Forsberg, Karin, Weishaupt, Jochen, Kim, Young-Eun, Andersen, Peter Munch |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8784989/ https://www.ncbi.nlm.nih.gov/pubmed/34518333 http://dx.doi.org/10.1136/jnnp-2021-327520 |
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