Yazar "Üstek, Duran" için TR-Dizin İndeksli Yayınlar Koleksiyonu listeleme
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A homozygous nonsense thyroid peroxidase mutation (R540X) consistently causes congenital hypothyroidism in two siblings born to a consanguineous family
Cangül, Hakan; Doğan, Murat; Üstek, Duran (Galenos Publishing, 2015)Objective: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, and mutations in the thyroid peroxidase (TPO) gene have been reported to cause the disease. Our aim in this study was to determine ...