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ANO3 Mutations in Chinese Dystonia: A Genetic Screening Study Using Next-Generation Sequencing

Background: Dystonia-24 (DYT24) is a monogenic autosomal dominant dystonia caused by mutations in the gene ANO3, which has shown phenotypic and genotypic heterogeneity according to previous reports. Objective: To screen and identify ANO3 mutations in a cohort of patients with dystonia in China and t...

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Detalles Bibliográficos
Autores principales: Li, Shanglin, Wang, Lin, Yang, Yingmai, Ma, Jun, Wan, Xinhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7020335/
https://www.ncbi.nlm.nih.gov/pubmed/32116979
http://dx.doi.org/10.3389/fneur.2019.01351