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Iodide organification defects resulting from cosegregation of mutated and null thyroid peroxidase alleles

✍ Scribed by T Kotani; K Umeki; I Yamamoto; S Ohtaki; M Adachi; K Tachibana


Book ID
117462806
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
502 KB
Volume
182
Category
Article
ISSN
0303-7207

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Thyroid peroxidase (TPO) defects, typically transmitted as autosomal recessive traits, result in hypothyroid goiters with failure to convert iodide into organic iodine. We analyzed the TPO gene in 14 unrelated patients with clinical evidence of iodide organification defects. Seven of the affected in