Rare KCND3 Loss-of-Function Mutation Associated With the SCA19/22

Spinocerebellar ataxia 19/22 (SCA19/22) is a rare neurodegenerative disorder caused by mutations of the KCND3 gene, which encodes the Kv4. 3 protein. Currently, only 22 KCND3 single-nucleotide mutation sites of SCA19/22 have been reported worldwide, and detailed pathogenesis remains unclear. In this...

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Detalles Bibliográficos
Autores principales: Li, Mengjie, Liu, Fen, Hao, Xiaoyan, Fan, Yu, Li, Jiadi, Hu, Zhengwei, Shi, Jingjing, Fan, Liyuan, Zhang, Shuo, Ma, Dongrui, Guo, Mengnan, Xu, Yuming, Shi, Changhe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9261871/
https://www.ncbi.nlm.nih.gov/pubmed/35813061
http://dx.doi.org/10.3389/fnmol.2022.919199

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