Genetic Variants Associated with Episodic Ataxia in Korea

Episodic ataxia (EA) is a rare neurological condition characterized by recurrent spells of truncal ataxia and incoordination. Five genes (KCNA1, CACNA1A, CACNB4, SLC1A3, and UBR4) have been linked to EA. Despite extensive efforts to genetically diagnose EA, many patients remain still undiagnosed. Wh...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Choi, Kwang-Dong, Kim, Ji-Soo, Kim, Hyo-Jung, Jung, Ileok, Jeong, Seong-Hae, Lee, Seung-Han, Kim, Dong Uk, Kim, Sang-Ho, Choi, Seo Young, Shin, Jin-Hong, Kim, Dae-Seong, Park, Kyung-Pil, Kim, Hyang-Sook, Choi, Jae-Hwan
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5653837/
https://ncbi.nlm.nih.gov/pubmed/29062094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-14254-7
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados