Article
High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.
The Journal of clinical endocrinology and metabolism - 1 Sept 2002
Niu Dau-Ming, Hwang Betau, Chu Yum-Kung, Liao Chun-Ju, Wang Pei-Ling, Lin Ching-Yuang
Abstract excerpt
The mutation of the thyroid peroxidase (TPO) gene that causes the total iodide organification defect (TIOD) is a common and severe condition leading to dyshormonogenesis of the thyroid gland in Caucasians. However, the role of TIOD in Chinese patients with thyroid dyshormonogenesis is unknown. In this study we followed 16 patients from 16 unrelated families in Taiwan and performed perchlorate discharge...
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