A novel foxn1 variant is identified in two siblings with nude severe combined immunodeficiency
dc.authorid | Sinem Fırtına / 0000-0002-3370-8545 | en_US |
dc.authorscopusid | Sinem Fırtına / 16642650000 | |
dc.authorwosid | Ayşenur Kaya / 55544555800 | |
dc.contributor.author | Fırtına, Sinem | |
dc.contributor.author | Erol Cipe, Funda | |
dc.contributor.author | Ng, Yuk Yin | |
dc.contributor.author | Kiykim, Ayça | |
dc.contributor.author | Ng, Özden Hatırnaz | |
dc.contributor.author | Sudutan, Tuğce | |
dc.contributor.author | Aydoğmuş, Çiğdem | |
dc.contributor.author | Barış, Safa | |
dc.contributor.author | Öztürk, Gülyüz | |
dc.contributor.author | Aydıner, Elif | |
dc.contributor.author | Özen, Ahmet | |
dc.contributor.author | Sayitoğlu, Müge | |
dc.date.accessioned | 2020-08-30T20:06:59Z | |
dc.date.available | 2020-08-30T20:06:59Z | |
dc.date.issued | 2019 | |
dc.department | İstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümü | en_US |
dc.description | Baris, 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/0000-0001-9755-6045 | en_US |
dc.description.abstract | Severe 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 cells | en_US |
dc.description.sponsorship | Istanbul University Research FundIstanbul University [52575, 20499] | en_US |
dc.description.sponsorship | This project is supported by Istanbul University Research Fund (No: 52575 and 20499) and Istanbul Bilgi University [Y.Y Ng, 2017)]. | en_US |
dc.identifier.citation | Firtina, 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/s10875-019-00615-6 | en_US |
dc.identifier.doi | 10.1007/s10875-019-00615-6 | en_US |
dc.identifier.endpage | 147 | en_US |
dc.identifier.issn | 0271-9142 | en_US |
dc.identifier.issn | 1573-2592 | en_US |
dc.identifier.issue | 2 | en_US |
dc.identifier.pmid | 30903456 | en_US |
dc.identifier.scopus | 2-s2.0-85063998040 | en_US |
dc.identifier.scopusquality | Q1 | en_US |
dc.identifier.startpage | 144 | en_US |
dc.identifier.uri | https://doi.org/10.1007/s10875-019-00615-6 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12713/669 | |
dc.identifier.volume | 39 | en_US |
dc.identifier.wos | WOS:000463216500006 | en_US |
dc.identifier.wosquality | Q1 | en_US |
dc.indekslendigikaynak | Web of Science | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.indekslendigikaynak | PubMed | en_US |
dc.institutionauthor | Fırtına, Sinem | en_US |
dc.language.iso | en | en_US |
dc.publisher | Springer/Plenum Publishers | en_US |
dc.relation.ispartof | Journal of Clinical Immunology | en_US |
dc.relation.publicationcategory | Diğer | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.title | A novel foxn1 variant is identified in two siblings with nude severe combined immunodeficiency | en_US |
dc.type | Letter | en_US |
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