Article
Identification and functional analysis of novel inactivating thyrotropin receptor mutations in patients with thyrotropin resistance.
Thyroid : official journal of the American Thyroid Association - 1 May 2006
Tsunekawa Katsuhiko, Onigata Kazumichi, Morimura Tadashi, Kasahara Takayuki, Nishiyama Soroku, Kamoda Tomohito, Mori Masatomo, Morikawa Akihiro, Murakami Masami
Abstract excerpt
OBJECTIVE: We identified and analyzed novel thyrotropin (TSH) receptor mutations in three Japanese families with resistance to TSH. DESIGN: The TSH receptor gene was sequenced and the mutations were determined. The mutant TSH receptors were transfected into COS-7 cells, and their functions were a...
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