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Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children

✍ Scribed by Diemud Simm; Nicole Pfarr; Joachim Pohlenz; Dirk Prawitt; Helmuth G. Dörr


Book ID
114815976
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
449 KB
Volume
98
Category
Article
ISSN
0803-5253

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Thyroid peroxidase (TPO) is the key enzyme in the synthesis of thyroid hormones. Defects in the TPO gene are reported to be the cause of congenital hypothyroidism due to a Total Iodide Organification Defect (TIOD). This type of defect, where iodide taken up by the thyroid gland cannot be oxidized an