ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients

Alternating hemiplegia of childhood (AHC) is a rare and severe neurological disorder. ATP1A3 was recently identified as the causative gene. Here we report the first genetic study in Chinese AHC cohort. We performed whole-exome sequencing on three trios and three unrelated patients, and screened addi...

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Detalles Bibliográficos
Autores principales: Yang, Xiaoling, Gao, Hua, Zhang, Jie, Xu, Xiaojing, Liu, Xiaoyan, Wu, Xiru, Wei, Liping, Zhang, Yuehua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026576/
https://www.ncbi.nlm.nih.gov/pubmed/24842602
http://dx.doi.org/10.1371/journal.pone.0097274

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