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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sci Rep
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2017
Pynciau:
Article
Mynediad Ar-lein: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
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