Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy.
作者信息
Kapás I, Katkó M, Harangi M, Paragh G, Balogh I, Kóczi Z, Regelsberger G, Molnár M J, Kovacs G G
机构信息
Neuropathology and Prion Disease Reference Centre, Semmelweis University, Budapest, Hungary; Department of Neurology, County Hospital, Vác, Hungary.
出版信息
Neuropathol Appl Neurobiol. 2014 Apr;40(3):345-50. doi: 10.1111/nan.12058.
PMID:23659550
Abstract
摘要
Zotero 插件