Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.
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Tajima T, Tsubaki J, Fujieda K
Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.
Endocr J. 2005 Oct;52(5):643-5.
- PubMed ID
- 16284446 [ View in PubMed]
- Abstract
We encountered a Japanese patient with goitrous hypothyroidism due to iodide organification defect in the thyroid gland. Sequence analysis identified two novel mutations (E378K in exon 8 and a heterozygous 10 base deletion of the intron 15-exon 16 boundary) in the thyroid peroxidase (TPO) gene. As individuals with goitrous hypothyroidism caused by TPO gene mutation develop thyroid cancer, regular and careful follow-up for such patients must be done.