Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report

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dc.contributor.authorGokturk, B.
dc.contributor.authorArtac, H.
dc.contributor.authorvan Eggermond, M. J.
dc.contributor.authorvan den Elsen, P.
dc.contributor.authorReisli, I.
dc.date.accessioned2024-02-23T14:24:18Z
dc.date.available2024-02-23T14:24:18Z
dc.date.issued2012
dc.departmentNEÜen_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.doi10.1111/j.1744-313X.2012.01105.x
dc.identifier.endpage364en_US
dc.identifier.issn1744-3121
dc.identifier.issue4en_US
dc.identifier.pmid22390233en_US
dc.identifier.scopus2-s2.0-84863579394en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage362en_US
dc.identifier.urihttps://doi.org/10.1111/j.1744-313X.2012.01105.x
dc.identifier.urihttps://hdl.handle.net/20.500.12452/13902
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.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/closedAccessen_US
dc.subject[Keyword Not Available]en_US
dc.titleType III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case reporten_US
dc.typeArticleen_US

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