Please use this identifier to cite or link to this item: https://hdl.handle.net/11147/9458
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dc.contributor.authorŞimşek Papur, Özlenen-
dc.contributor.authorTerzioğlu, Orhan-
dc.contributor.authorKoç, Ahmet-
dc.date.accessioned2020-07-25T22:12:33Z-
dc.date.available2020-07-25T22:12:33Z-
dc.date.issued2016-
dc.identifier.issn1742-464X-
dc.identifier.issn1742-4658-
dc.identifier.urihttps://hdl.handle.net/11147/9458-
dc.description41st FEBS Congress on Molecular and Systems Biology for a Better Life -- SEP 03-08, 2016 -- Kusadasi, TURKEYen_US
dc.description.abstractWilson disease is an autosomal recessive disorder of copper metabolism characterized as neurodegeneration and liver abnormalities. It is caused by defects in the ATP7B gene. ATP7B is responsible for the sequestration of Cu into secretory vesicles, and this function is exhibited by the orthologous Ccc2p in the yeast. We aimed to characterize clinically-relevant novel mutations of p.T788I, p.V1036I and p.R1038G-fsX8 in yeast lacking the CCC2 gene.en_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofFEBS Journalen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleFunctional characterization of clinically relevant novel mutations in ATP7B gene using the Saccharomyces cerevisiae modelen_US
dc.typeConference Objecten_US
dc.institutionauthorKoç, Ahmet-
dc.departmentİzmir Institute of Technology. Molecular Biology and Geneticsen_US
dc.identifier.volume283en_US
dc.identifier.startpage272en_US
dc.identifier.endpage272en_US
dc.identifier.wosWOS:000383616901450en_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanıen_US
local.message.claim2022-06-06T11:56:50.142+0300|||rp00417|||submit_approve|||dc_contributor_author|||None*
dc.identifier.wosqualityQ2-
dc.identifier.scopusqualityQ1-
item.openairetypeConference Object-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextWith Fulltext-
item.languageiso639-1en-
item.cerifentitytypePublications-
item.grantfulltextopen-
crisitem.author.dept04.03. Department of Molecular Biology and Genetics-
Appears in Collections:Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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