Thongkum SunthornthepvarakulKitti AngsusinghaSupawadee LikitmaskulSupunnee NgowngarmratanaSamuel RefetoffRajavithi HospitalMahidol UniversityUniversity of Chicago2018-07-042018-07-041997-01-01Thyroid. Vol.7, No.6 (1997), 905-907105072562-s2.0-0031435508https://repository.li.mahidol.ac.th/handle/123456789/17922Analysis of the thyroid hormone receptor β (TRβ) gene of a Thai female with the syndrome of resistance to thyroid hormone (RTH) revealed a missense mutation at codon 317, changing the guanine in nucleotide 1234 to an adenine that results in the replacement of the normal alanine (GCT) with a threonine (ACT). The proposita was heterozygous, and this mutation was not present in her parents and her sister, compatible with a neomutation. This is the first report of TRβ gene mutation causing RTH in an individual of Thai origin.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineArticleSCOPUS10.1089/thy.1997.7.905