A novel homozygous nonsense mutation (p.R516X) in the SLC5A5 gene causing congenital hypothyroidism
AuthorIşık, Fatma Büşra
Sözügüzel, Mavi Deniz
Kılıçoğlu Aydın, Birsen
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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.