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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Foilsithe in:Commun Biol
Main Authors: 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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group UK 2020
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Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6970999/
https://ncbi.nlm.nih.gov/pubmed/31959876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s42003-020-0755-1
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