Pitfalls in diagnosing Wilson's Disease by genetic testing alone: the case of a 47-year-old woman with two pathogenic variants of the ATP7B gene.
作者信息
Antos Agnieszka, Litwin Tomasz, Skowrońska Marta, Kurkowska-Jastrzębska Iwona, Członkowska Anna
机构信息
Second Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02 957 Warsaw, Poland.
出版信息
Neurol Neurochir Pol. 2020;54(5):478-480. doi: 10.5603/PJNNS.a2020.0063. Epub 2020 Aug 18.
PMID:32808274
Abstract
摘要
Zotero 插件