A novel homozygous change of (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
作者信息
Giorgio Elisa, Vaula Giovanna, Benna Paolo, Lo Buono Nicola, Eandi Chiara Maria, Dino Daniele, Mancini Cecilia, Cavalieri Simona, Di Gregorio Eleonora, Pozzi Elisa, Ferrero Marta, Giordana Maria Teresa, Depienne Christel, Brusco Alfredo
机构信息
Department of Medical Sciences, Medical Genetics Unit, University of Torino, Torino, Italy.
Department of Neurology, Città della Salute e della Scienza University Hospital, Torino, Italy.
出版信息
J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):894-896. doi: 10.1136/jnnp-2016-315525. Epub 2017 May 4.
PMID:28473625
Abstract
摘要
Zotero 插件