657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population

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dc.contributor.authorTekin, M
dc.contributor.authorAkcayoz, D
dc.contributor.authorUcar, C
dc.contributor.authorGulen, H
dc.contributor.authorAkar, N
dc.date.accessioned2020-03-26T16:56:23Z
dc.date.available2020-03-26T16:56:23Z
dc.date.issued2005
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractThe 657de15 mutation of the NBS1 gene has been demonstrated in most patients with Nijmegen breakage syndrome (NBS). We identified four Turkish families in which probands were diagnosed as having NBS and found to be homozygous for the 657de15 mutation. The 657de15 allele in the four Turkish families had a single origin.en_US
dc.identifier.doi10.1353/hub.2005.0056en_US
dc.identifier.endpage397en_US
dc.identifier.issn0018-7143en_US
dc.identifier.issue3en_US
dc.identifier.pmid16392640en_US
dc.identifier.startpage393en_US
dc.identifier.urihttps://dx.doi.org/10.1353/hub.2005.0056
dc.identifier.urihttps://hdl.handle.net/20.500.12395/19554
dc.identifier.volume77en_US
dc.identifier.wosWOS:000233184700008en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWAYNE STATE UNIV PRESSen_US
dc.relation.ispartofHUMAN BIOLOGYen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectfounder effecten_US
dc.subjectNijmegen breakage syndromeen_US
dc.subjectNBS1en_US
dc.subjectSlavsen_US
dc.subjectTurksen_US
dc.title657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish populationen_US
dc.typeArticleen_US

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