CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual

Amyotrophic lateral sclerosis (ALS) is a severe disease causing motor neuron death, but a complete cure has not been developed and related genes have not been defined in more than 80% of cases. Here we compared whole genome sequencing results from a male ALS patient and his healthy parents to identi...

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Detalles Bibliográficos
Autores principales: Yun, Yeomin, Hong, Sung-Ah, Kim, Ka-Kyung, Baek, Daye, Lee, Dongsu, Londhe, Ashwini M., Lee, Minhyung, Yu, Jihyeon, McEachin, Zachary T., Bassell, Gary J., Bowser, Robert, Hales, Chadwick M., Cho, Sung-Rae, Kim, Janghwan, Pae, Ae Nim, Cheong, Eunji, Kim, Sangwoo, Boulis, Nicholas M., Bae, Sangsu, Ha, Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6970999/
https://www.ncbi.nlm.nih.gov/pubmed/31959876
http://dx.doi.org/10.1038/s42003-020-0755-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6970999/
https://www.ncbi.nlm.nih.gov/pubmed/31959876
http://dx.doi.org/10.1038/s42003-020-0755-1

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