title: A novel missense mutation in the thyroid hormone receptor beta gene in a kindred with resistance to thyroid hormone.
abstract: Direct sequencing of exon 9 of the thyroid hormone receptor beta (TRbeta) gene in a kindred with resistance to thyroid hormone revealed a substitution of threonine for methionine in codon 313 in one allele resulting from a T to C transition. This is a novel missense mutation that resides in one of the two mutational "hot-spot" regions of the TR beta gene suggesting altered triiodothyronine binding to this mutant receptor.
authors.affiliation: Department of Internal Medicine II, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Kijima
authors.forename: M
authors.initials: M
authors.lastname: Kubo
authors.forename: T
authors.initials: T
authors.lastname: Ishizuka
authors.forename: M
authors.initials: M
authors.lastname: Kakinuma
authors.forename: T
authors.initials: T
authors.lastname: Koike
mesh_terms: D000328:Adult; D001483:Base Sequence; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D014284:Triiodothyronine / Q000235:genetics*
chemical_list: D011988:Receptors, Thyroid Hormone; D014284:Triiodothyronine