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Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.

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dc.contributor.authorTakahashi, Taiko
dc.contributor.authorMercan, Sevcan
dc.contributor.authorSassa, Takayuki
dc.contributor.authorAkçapınar, Günseli Bayram
dc.contributor.authorYararbaş, Kanay
dc.contributor.authorSüsgün, Seda
dc.contributor.authorİşeri, Sibel Aylin Uğur
dc.contributor.authorKihara, Akio
dc.contributor.authorAkçakaya, Nihan Hande
dc.contributor.institutionauthorSÜSGÜN, SEDA
dc.date.accessioned2022-04-07T20:59:05Z
dc.date.available2022-04-07T20:59:05Z
dc.date.issued2022-04-01T00:00:00Z
dc.identifier.citationTakahashi T., Mercan S., Sassa T., Akçapınar G. B. , Yararbaş K., Süsgün S., İşeri S. A. U. , Kihara A., Akçakaya N. H. , -Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.-, Brain & development, 2022
dc.identifier.doi10.1016/j.braindev.2022.03.003
dc.identifier.pubmed35379526
dc.identifier.scopus85127516183
dc.identifier.urihttp://hdl.handle.net/20.500.12645/30511
dc.identifier.wosWOS:000802981700005
dc.titleHypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.
dc.typeArticle
dspace.entity.typePublication
local.avesis.id4a32d629-2106-4fb2-96b9-5b7f3acf9e4d
local.indexed.atPubMed
local.indexed.atWOS
local.indexed.atScopus
local.publication.isinternational1
relation.isAuthorOfPublicationc630e619-3437-4b50-940e-8aef11c5388c
relation.isAuthorOfPublication.latestForDiscoveryc630e619-3437-4b50-940e-8aef11c5388c

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