Yazar "Cangül, Hakan" 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 ... -
The missense alteration A5T of the thyroid peroxidase gene is pathogenic and associated with mild congenital hypothyroidism
Cangül, Hakan; Demir, Korcan; Babayiğit, Ömür; Abacı, Ayhan; Böber, Ece (Galenos Publishing, 2015)Congenital hypothyroidism (CH) occurs with a prevalence of approximately 1:4000 live births. Defects of thyroid hormone synthesis account for 15-20% of these cases. Thyroid peroxidase (TPO) gene is the most common cause ...