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Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community

dc.contributor.authorOlivera-Nappa, Alvaro
dc.contributor.authorBas, Veysel
dc.contributor.authorDEMİR, KORCAN
dc.contributor.authorKendall, Michaela
dc.contributor.authorCole, Trevor
dc.contributor.authorHoegler, Wolfgang
dc.contributor.authorChatterjee, V. Krishna K.
dc.contributor.authorBarrett, Timothy G.
dc.contributor.authorMaher, Eamonn R.
dc.contributor.authorDarendeliler, Fatma Feyza
dc.contributor.authorAydin, Banu K.
dc.contributor.authorCangul, Hakan
dc.contributor.authorAycan, Zehra
dc.contributor.authorSaglam, Halil
dc.contributor.authorSchoenmakers, Nadia A.
dc.contributor.authorBoelaert, Kristien
dc.contributor.authorCetinkaya, Semra
dc.contributor.authorTarim, Omer
dc.contributor.authorBÖBER, ECE
dc.date.accessioned2021-03-06T20:40:34Z
dc.date.available2021-03-06T20:40:34Z
dc.date.issued2013
dc.identifier.citationCangul H., Aycan Z., Olivera-Nappa A., Saglam H., Schoenmakers N. A. , Boelaert K., Cetinkaya S., Tarim O., BÖBER E., Darendeliler F. F. , et al., "Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community", CLINICAL ENDOCRINOLOGY, cilt.79, ss.275-281, 2013
dc.identifier.issn0300-0664
dc.identifier.othervv_1032021
dc.identifier.otherav_fb39584d-e9ee-4335-a49a-ecb22f4c247a
dc.identifier.urihttp://hdl.handle.net/20.500.12627/164475
dc.identifier.urihttps://doi.org/10.1111/cen.12127
dc.description.abstractObjective In this study, we aimed to investigate the genetic background of thyroid dyshormonogenesis (TDH). Context Thyroid dyshormonogenesis comprises 10-15% of all cases of congenital hypothyroidism (CH), which is the most common neonatal endocrine disorder, and might result from disruptions at any stage of thyroid hormone biosynthesis. Currently seven genes (NIS, TPO, PDS, TG, IYD, DUOX2 and DUOXA2) have been implicated in the aetiology of the disease.
dc.language.isoeng
dc.subjectEndocrine and Autonomic Systems
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectEndocrinology
dc.subjectEndocrinology, Diabetes and Metabolism
dc.subjectLife Sciences
dc.subjectHealth Sciences
dc.titleThyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community
dc.typeMakale
dc.relation.journalCLINICAL ENDOCRINOLOGY
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume79
dc.identifier.issue2
dc.identifier.startpage275
dc.identifier.endpage281
dc.contributor.firstauthorID210408


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