A novel foxn1 variant is identified in two siblings with nude severe combined immunodeficiency

dc.authoridSinem Fırtına / 0000-0002-3370-8545en_US
dc.authorscopusidSinem Fırtına / 16642650000
dc.authorwosidAyşenur Kaya / 55544555800
dc.contributor.authorFırtına, Sinem
dc.contributor.authorErol Cipe, Funda
dc.contributor.authorNg, Yuk Yin
dc.contributor.authorKiykim, Ayça
dc.contributor.authorNg, Özden Hatırnaz
dc.contributor.authorSudutan, Tuğce
dc.contributor.authorAydoğmuş, Çiğdem
dc.contributor.authorBarış, Safa
dc.contributor.authorÖztürk, Gülyüz
dc.contributor.authorAydıner, Elif
dc.contributor.authorÖzen, Ahmet
dc.contributor.authorSayitoğlu, Müge
dc.date.accessioned2020-08-30T20:06:59Z
dc.date.available2020-08-30T20:06:59Z
dc.date.issued2019
dc.departmentİstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümüen_US
dc.descriptionBaris, Safa/0000-0002-4730-9422; kiykim, ayca/0000-0001-5821-3963; FIRTINA, Sinem/0000-0002-3370-8545; Ozen, Ahmet/0000-0002-9065-1901; NG, YUK YIN/0000-0001-9755-6045en_US
dc.description.abstractSevere combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) caused by gene variants that lead to a failure of functional T cell development, with or without accompanying defects in the production of B and/or NK cellsen_US
dc.description.sponsorshipIstanbul University Research FundIstanbul University [52575, 20499]en_US
dc.description.sponsorshipThis project is supported by Istanbul University Research Fund (No: 52575 and 20499) and Istanbul Bilgi University [Y.Y Ng, 2017)].en_US
dc.identifier.citationFirtina, S., Cipe, F., Ng, Y. Y., Kiykim, A., Ng, O. H., Sudutan, T., … Sayitoglu, M. (2019). A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency. JOURNAL OF CLINICAL IMMUNOLOGY, 39(2), 144–147. https://doi.org/10.1007/s10875-019-00615-6en_US
dc.identifier.doi10.1007/s10875-019-00615-6en_US
dc.identifier.endpage147en_US
dc.identifier.issn0271-9142en_US
dc.identifier.issn1573-2592en_US
dc.identifier.issue2en_US
dc.identifier.pmid30903456en_US
dc.identifier.scopus2-s2.0-85063998040en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage144en_US
dc.identifier.urihttps://doi.org/10.1007/s10875-019-00615-6
dc.identifier.urihttps://hdl.handle.net/20.500.12713/669
dc.identifier.volume39en_US
dc.identifier.wosWOS:000463216500006en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorFırtına, Sinemen_US
dc.language.isoenen_US
dc.publisherSpringer/Plenum Publishersen_US
dc.relation.ispartofJournal of Clinical Immunologyen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleA novel foxn1 variant is identified in two siblings with nude severe combined immunodeficiencyen_US
dc.typeLetteren_US

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