Publication:
A novel bnlk mutation presenting with hepatopathy and rickets

dc.contributor.buuauthorKılıç, Sara Şebnem
dc.contributor.buuauthorKILIÇ GÜLTEKİN, SARA ŞEBNEM
dc.contributor.buuauthorKöse, Hülya
dc.contributor.buuauthorKÖSE, HÜLYA
dc.contributor.buuauthorKarali, Yasin
dc.contributor.buuauthorKARALI, YASİN
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları Ana Bilim Dalı.
dc.contributor.orcid0000-0002-1245-4232
dc.date.accessioned2025-01-24T13:32:58Z
dc.date.available2025-01-24T13:32:58Z
dc.date.issued2024-04-23
dc.identifier.doi10.1016/j.clim.2024.109946
dc.identifier.issn1521-6616
dc.identifier.issueSupplement S
dc.identifier.urihttps://doi.org/10.1016/j.clim.2024.109946
dc.identifier.urihttps://hdl.handle.net/11452/49813
dc.identifier.volume262
dc.identifier.wos001296205300005
dc.indexed.wosWOS.SCI
dc.indexed.wosWOS.ISTP
dc.language.isoen
dc.publisherAcademic Press Inc Elsevier Science
dc.relation.journalClinical Immunology
dc.subjectBlnk deficiency
dc.subjectInborn errors of immunity
dc.subjectLiver failure
dc.subjectRickets
dc.subjectHepatopathy
dc.subjectScience & technology
dc.subjectLife sciences & biomedicine
dc.subjectImmunology
dc.titleA novel bnlk mutation presenting with hepatopathy and rickets
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı.
local.indexed.atWOS
relation.isAuthorOfPublicationcb4f5525-5861-44f7-8234-fc2b376a934d
relation.isAuthorOfPublicationfef47ba3-ceb6-48f6-802a-217e67327000
relation.isAuthorOfPublication0a2bfa05-0e6e-4f99-ae52-704e9dc7a4f5
relation.isAuthorOfPublication.latestForDiscoverycb4f5525-5861-44f7-8234-fc2b376a934d

Files