Rare variants in MYH15 modify amyotrophic lateral sclerosis risk

Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterized by progressive muscular atrophy and respiratory failure. The G(4)C(2) repeat expansion in the C9orf72 gene is the most prevalent genetic risk for ALS. Mutation carriers (C9ALS) display variability in phenotypes such a...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Kim, Hyerim, Lim, Junghwa, Bao, Han, Jiao, Bin, Canon, Se Min, Epstein, Michael P, Xu, Keqin, Jiang, Jie, Parameswaran, Janani, Li, Yingjie, Moberg, Kenneth H, Landers, John E, Fournier, Christina, Allen, Emily G, Glass, Jonathan D, Wingo, Thomas S, Jin, Peng
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
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General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6606848/
https://ncbi.nlm.nih.gov/pubmed/30985904
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz063
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