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

Işık, Fatma BüşraSözügüzel, Mavi DenizKılıçoğlu Aydın, BirsenParlayan, CüneydYıldız, MeteCangül, Hakan2019-12-252019-12-252019Işık, 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, 2019.1476-54381018-4813https://hdl.handle.net/20.500.12511/4675Conference Conference: 52nd Conference of the European-Society-of-Human-Genetics (ESHG) Location: Gothenburg, SWEDEN Date: JUN 15-18, 2019[Abstract Not Available]eninfo:eu-repo/semantics/closedAccessSLC5A5 GeneCongenital HypothyroidismMutationp.R516XA novel homozygous nonsense mutation (p.R516X) in the SLC5A5 gene causing congenital hypothyroidismConference Object27Supplement: 212481249Q2