Publication:
Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy

Simple item page
dc.contributor.authorGoncu, BEYZA
dc.contributor.authorAslanger, A.
dc.contributor.authorOzgul, C.
dc.contributor.authorHasanoglu, S.
dc.contributor.authorYesil, G.
dc.contributor.institutionauthorGÖNCÜ, BEYZA SERVET
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2021-02-08T20:59:09Z
dc.date.available2021-02-08T20:59:09Z
dc.date.issued2020-12-01T00:00:00Z
dc.description.sponsorshipBezmiâlem Vakıf Üniversitesi
dc.identifier.citationYÜCESAN E., Goncu B., Aslanger A., Ozgul C., Hasanoglu S., Yesil G., -Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy-, EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.28, ss.344-345, 2020
dc.identifier.urihttp://hdl.handle.net/20.500.12645/28367
dc.identifier.wosWOS:000598482601194
dc.titleIdentification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy
dc.typeArticle
dspace.entity.typePublication
local.avesis.id4674b065-4231-43ba-ad81-699a5c661dca
local.indexed.atWOS
local.publication.isinternational1
relation.isAuthorOfPublication2f62fb6f-8415-4dca-9a79-54a3d131a08a
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70

Files

Collections

Yayınlar - Eserler