A novel homozygous nonsense mutation (p.R516X) in the SLC5A5 gene causing congenital hypothyroidism
Küçük Resim Yok
Tarih
2019
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Nature Publishing Group
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
[Abstract Not Available]
Açıklama
Conference Conference: 52nd Conference of the European-Society-of-Human-Genetics (ESHG) Location: Gothenburg, SWEDEN Date: JUN 15-18, 2019
Anahtar Kelimeler
SLC5A5 Gene, Congenital Hypothyroidism, Mutation, p.R516X
Kaynak
52nd Conference of the European-Society-of-Human-Genetics (ESHG)
WoS Q Değeri
Q2
Scopus Q Değeri
Cilt
27
Sayı
Supplement: 2
Künye
Işık, 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.
