Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing

BACKGROUND: Primary periodic paralysis is characterized by recurrent quadriplegia typically associated with abnormal serum potassium levels. The molecular diagnosis of primary PP previously based on Sanger sequencing of hot spots or exon-by-exon screening of the reported genes. METHODS: We developed...

Descripción completa

Detalles Bibliográficos
Autores principales: Luo, Sushan, Xu, Minjie, Sun, Jian, Qiao, Kai, Song, Jie, Cai, Shuang, Zhu, Wenhua, Zhou, Lei, Xi, Jianying, Lu, Jiahong, Ni, Xiaohua, Dou, Tonghai, Zhao, Chongbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505267/
https://www.ncbi.nlm.nih.gov/pubmed/31068157
http://dx.doi.org/10.1186/s12883-019-1322-6

Ejemplares similares

Ejemplares similares