Publication:
Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up

Simple item page
dc.contributor.authorBektas, Gonca
dc.contributor.authorYEŞİL, GÖZDE
dc.contributor.authorOzkan, Melis Ulak
dc.contributor.authorYildiz, Edibe Pembegul
dc.contributor.authorUzunhan, Tugce Aksu
dc.contributor.authorCaliskan, Mine
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2019-11-17T23:41:42Z
dc.date.available2019-11-17T23:41:42Z
dc.date.issued2018-08-01
dc.description.abstractBackground: Vanishing white matter disease is a heterogeneous disorder caused by mutation in one of the five genes encoding subunits of the eukaryotic initiation factor eIF2B. It is a heterogeneous disorder due to phenotypic variation and a clear genotype-phenotype correlation could not be established so far. We describe a novel mutation in the EIF2B5 gene by analyzing the clinical phenotype and the progression of brain lesions for 10 years.
dc.identifier.citationBektas G., YEŞİL G., Ozkan M. U. , Yildiz E. P. , Uzunhan T. A. , Caliskan M., -Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up-, CLINICAL NEUROLOGY AND NEUROSURGERY, cilt.171, ss.190-193, 2018
dc.identifier.pubmed29933199
dc.identifier.urihttps://hdl.handle.net/20.500.12645/10344
dc.language.isoen
dc.titleVanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up
dc.typeArticle
dspace.entity.typePublication
local.avesis.id4382a5cb-2bd6-4434-984f-39557ff27774
local.indexed.atPubMed
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70

Files

Collections

Yayınlar - Eserler
Tıp Fakültesi