Type III Bare Lymphocyte Syndrome Associated with a Novel RFXAP Mutation: A Case Report

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dc.contributor.authorGöktürk, B.
dc.contributor.authorArtaç, H.
dc.contributor.authorvan Eggermond, M. J.
dc.contributor.authorvan den Elsen, P.
dc.contributor.authorReisli, İ.
dc.date.accessioned2020-03-26T18:32:02Z
dc.date.available2020-03-26T18:32:02Z
dc.date.issued2012
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractType III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X-associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE-region at amino acid 73.en_US
dc.identifier.citationGöktürk, B., Artaç, H., van Eggermond, M. J., van den Elsen, P., Reisli, İ., (2012). Type III Bare Lymphocyte Syndrome Associated with a Novel RFXAP Mutation: A Case Report. International Journal of Immunogenetics, 39(4), 362-364. doi: 10.1111/j.1744-313X.2012.01105.x
dc.identifier.doi10.1111/j.1744-313X.2012.01105.xen_US
dc.identifier.endpage364en_US
dc.identifier.issn1744-3121en_US
dc.identifier.issue4en_US
dc.identifier.pmid22390233en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage362en_US
dc.identifier.urihttps://dx.doi.org/10.1111/j.1744-313X.2012.01105.x
dc.identifier.urihttps://hdl.handle.net/20.500.12395/28597
dc.identifier.volume39en_US
dc.identifier.wosWOS:000306078300014en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorArtaç, H.
dc.institutionauthorReisli, İ.
dc.institutionauthorGöktürk, B.
dc.language.isoenen_US
dc.publisherWILEY-BLACKWELLen_US
dc.relation.ispartofInternational Journal of Immunogeneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.titleType III Bare Lymphocyte Syndrome Associated with a Novel RFXAP Mutation: A Case Reporten_US
dc.typeArticleen_US

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