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Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families

The present study was performed to investigate the clinical manifestations and pathogenic variants in three large families with autosomal dominant paroxysmal kinesigenic dyskinesia (PKD) and/or benign familial infantile epilepsy (BFIE) in China. Detailed clinical data and family history were collect...

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Detalhes bibliográficos
Publicado no:Exp Ther Med
Main Authors: He, Jialinzi, Tang, Haiyun, Liu, Chaorong, Tan, Langzi, Xiao, Wenbiao, Xiao, Bo, Long, Hongyu, Long, Lili
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8005681/
https://ncbi.nlm.nih.gov/pubmed/33791013
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2021.9935
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