High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.

@article{Avbelj2007HighPO,
  title={High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.},
  author={Magdalena Avbelj and Husref Tahirovi{\'c} and Maru{\vs}a Debeljak and Maria Kusekova and Alma Toromanovi{\'c} and Ciril Kr{\vz}i{\vs}nik and Tadej Battelino},
  journal={European journal of endocrinology},
  year={2007},
  volume={156 5},
  pages={
          511-9
        }
}
OBJECTIVE Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism (CH). Thyroid peroxidase gene (TPO) mutations are one of the most common causes of thyroid dyshormonogenesis. The aim of this study was to identify TPO gene defects in a cohort of patients with thyroid dyshormonogenesis from Slovenia, Bosnia, and Slovakia. DESIGN AND METHODS Forty-three patients with… CONTINUE READING

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