Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy

dc.contributor.author	Kapás, István
dc.contributor.author	Katkó, Mónika
dc.contributor.author	Harangi, Mariann
dc.contributor.author	Paragh, György
dc.contributor.author	Balogh, István
dc.contributor.author	Kóczi Z
dc.contributor.author	Regelsberger G
dc.contributor.author	Molnár, Mária Judit
dc.contributor.author	Kovacs GG
dc.date.accessioned	2016-11-23T13:13:44Z
dc.date.available	2016-11-23T13:13:44Z
dc.date.issued	2014
dc.identifier	84883457968
dc.identifier.citation	pagination=345-350; journalVolume=40; journalIssueNumber=30; journalTitle=NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY;
dc.identifier.uri	http://repo.lib.semmelweis.hu//handle/123456789/2815
dc.identifier.uri	doi:10.1111/nan.12058
dc.relation.ispartof	urn:issn:0305-1846
dc.title	Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy
dc.type	Journal Article
dc.date.updated	2015-11-26T14:57:25Z
dc.language.rfc3066	en
dc.identifier.mtmt	2316841
dc.identifier.wos	000332707300009
dc.identifier.pubmed	23659550
dc.contributor.department	SE/AOK/K/Neurológiai Klinika
dc.contributor.department	SE/AOK/I/Genomikai Medicina és Ritka Betegségek Intézete
dc.contributor.institution	Semmelweis Egyetem