Article
Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.
The Journal of clinical endocrinology and metabolism - 1 Aug 2006
Hishinuma Akira, Fukata Shuji, Nishiyama Soroku, Nishi Yoshikazu, Oh-Ishi Masamichi, Murata Yoshiharu, Ohyama Yoshihide, Matsuura Nobuo, Kasai Kikuo, Harada Shohei, Kitanaka Sachiko, Takamatsu Junta, Kiwaki Kohji, Ohye Hidemi, Uruno Takashi, Tomoda Chisato, Tajima Toshihiro, Kuma Kanji, Miyauchi Akira, Ieiri Tamio
Abstract excerpt
CONTEXT: Thyroglobulin (Tg) mutations were previously believed to be rare, resulting in congenital goitrous hypothyroidism. However, an increasing number of patients with Tg mutations, who are euthyroid to mildly hypothyroid, have been identified in Japan. OBJECTIVES: The purpose of this study was to investigate whether the three frequently found Tg mutations, namely C1058R, C1245R, and C1977S, were caused by a...
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