A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism.
作者信息
Gupta Harsh V, Vengoechea Jaime, Sahaya Kinshuk, Virmani Tuhin
机构信息
Department of Neurology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Slot # 500, Little Rock, AR 72205, USA.
Division of Genetics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.
出版信息
Parkinsonism Relat Disord. 2015 Dec;21(12):1473-5. doi: 10.1016/j.parkreldis.2015.10.001. Epub 2015 Oct 8.
Abstract
摘要
Zotero 插件