A novel homozygous nonsense mutation (p.R516X) in the SLC5A5 gene causing congenital hypothyroidism

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dc.authorid0000-0002-6183-9489
dc.contributor.authorIşık, Fatma Büşra
dc.contributor.authorSözügüzel, Mavi Deniz
dc.contributor.authorKılıçoğlu Aydın, Birsen
dc.contributor.authorParlayan, Cüneyd
dc.contributor.authorYıldız, Mete
dc.contributor.authorCangül, Hakan
dc.date.accessioned2019-12-25T09:11:33Z
dc.date.available2019-12-25T09:11:33Z
dc.date.issued2019
dc.departmentİstanbul Medipol Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Biyomedikal Mühendisliği Bölümü
dc.descriptionConference Conference: 52nd Conference of the European-Society-of-Human-Genetics (ESHG) Location: Gothenburg, SWEDEN Date: JUN 15-18, 2019
dc.description.abstract[Abstract Not Available]
dc.description.sponsorshipEuropean Society of Human Geneticsen_US
dc.identifier.citationIşık, F. B., Sözügüzel, M. D., Kılıçoğlu Aydın, B., Parlayan, C., Yıldız, M. ve Cangül, H. (2019). A novel homozygous nonsense mutation (p.R516X) in the SLC5A5 gene causing congenital hypothyroidism. 52nd Conference of the European-Society-of-Human-Genetics (ESHG) içinde (1248-1249. ss.). Gothenburg, Sweden, June 15-18, 2019.
dc.identifier.endpage1249
dc.identifier.issn1476-5438
dc.identifier.issn1018-4813
dc.identifier.issueSupplement: 2
dc.identifier.startpage1248
dc.identifier.urihttps://hdl.handle.net/20.500.12511/4675
dc.identifier.volume27
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.language.isoen
dc.publisherNature Publishing Group
dc.relation.ispartof52nd Conference of the European-Society-of-Human-Genetics (ESHG)en_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectSLC5A5 Gene
dc.subjectCongenital Hypothyroidism
dc.subjectMutation
dc.subjectp.R516X
dc.titleA novel homozygous nonsense mutation (p.R516X) in the SLC5A5 gene causing congenital hypothyroidism
dc.typeConference Object

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