Publication: A novel bnlk mutation presenting with hepatopathy and rickets
dc.contributor.buuauthor | Kılıç, Sara Şebnem | |
dc.contributor.buuauthor | KILIÇ GÜLTEKİN, SARA ŞEBNEM | |
dc.contributor.buuauthor | Köse, Hülya | |
dc.contributor.buuauthor | KÖSE, HÜLYA | |
dc.contributor.buuauthor | Karali, Yasin | |
dc.contributor.buuauthor | KARALI, YASİN | |
dc.contributor.department | Tıp Fakültesi | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı. | |
dc.contributor.orcid | 0000-0002-1245-4232 | |
dc.date.accessioned | 2025-01-24T13:32:58Z | |
dc.date.available | 2025-01-24T13:32:58Z | |
dc.date.issued | 2024-04-23 | |
dc.identifier.doi | 10.1016/j.clim.2024.109946 | |
dc.identifier.issn | 1521-6616 | |
dc.identifier.issue | Supplement S | |
dc.identifier.uri | https://doi.org/10.1016/j.clim.2024.109946 | |
dc.identifier.uri | https://hdl.handle.net/11452/49813 | |
dc.identifier.volume | 262 | |
dc.identifier.wos | 001296205300005 | |
dc.indexed.wos | WOS.SCI | |
dc.indexed.wos | WOS.ISTP | |
dc.language.iso | en | |
dc.publisher | Academic Press Inc Elsevier Science | |
dc.relation.journal | Clinical Immunology | |
dc.subject | Blnk deficiency | |
dc.subject | Inborn errors of immunity | |
dc.subject | Liver failure | |
dc.subject | Rickets | |
dc.subject | Hepatopathy | |
dc.subject | Science & technology | |
dc.subject | Life sciences & biomedicine | |
dc.subject | Immunology | |
dc.title | A novel bnlk mutation presenting with hepatopathy and rickets | |
dc.type | Meeting Abstract | |
dspace.entity.type | Publication | |
local.contributor.department | Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı. | |
local.indexed.at | WOS | |
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