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Phenotypic variability including Behcet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A > G splice site mutation

dc.contributor.authorNierkens, S.
dc.contributor.authorEkmekci, S. Sirma
dc.contributor.authorvan Montfrans, J.
dc.contributor.authorvan Gijn, M. E.
dc.contributor.authorGul, A.
dc.contributor.authorvan Well, G. T. J.
dc.contributor.authorKant, B.
dc.contributor.authorvan Nistelrooij, A.
dc.contributor.authorHenriet, S. S. V.
dc.contributor.authorHoppenreijs, E.
dc.contributor.authorvan Deuren, M.
dc.date.accessioned2021-03-04T19:42:47Z
dc.date.available2021-03-04T19:42:47Z
dc.date.issued2019
dc.identifier.citationvan Well G. T. J. , Kant B., van Nistelrooij A., Ekmekci S. S. , Henriet S. S. V. , Hoppenreijs E., van Deuren M., van Montfrans J., Nierkens S., Gul A., et al., "Phenotypic variability including Behcet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A > G splice site mutation", CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, cilt.37, ss.142-146, 2019
dc.identifier.issn0392-856X
dc.identifier.othervv_1032021
dc.identifier.otherav_9115c3f4-4c9e-483a-8520-24059fe403d1
dc.identifier.urihttp://hdl.handle.net/20.500.12627/97905
dc.description.abstractObjective. To describe phenotypic and functional characteristics of patients with the homozygous c.973-2A>G splice site mutation in the adenosine deaminase 2 (ADA2) gene (rs139750129), resulting in deficiency of ADA2 (DADA2).
dc.language.isoeng
dc.subjectİmmünoloji ve Romatoloji
dc.subjectSağlık Bilimleri
dc.subjectİç Hastalıkları
dc.subjectDahili Tıp Bilimleri
dc.subjectTıp
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectROMATOLOJİ
dc.titlePhenotypic variability including Behcet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A > G splice site mutation
dc.typeMakale
dc.relation.journalCLINICAL AND EXPERIMENTAL RHEUMATOLOGY
dc.contributor.departmentHogeschool Maastricht , ,
dc.identifier.volume37
dc.identifier.issue6
dc.identifier.startpage142
dc.identifier.endpage146
dc.contributor.firstauthorID261128


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