A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
作者信息
Ostrozovicova Miriama, Jech Robert, Steel Dora, Pavelekova Petra, Han Vladimir, Gdovinova Zuzana, Lichtner Peter, Kurian Manju A, Wiethoff Sarah, Houlden Henry, Havránková Petra, Winkelmann Julianne, Zech Michael, Skorvanek Matej
机构信息
Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
出版信息
Mov Disord. 2021 Aug;36(8):1984-1985. doi: 10.1002/mds.28647. Epub 2021 May 17.
PMID:33998058
Abstract
摘要
Zotero 插件