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A novel missense mutation in the thyroid hormone receptor beta gene in a kindred with resistance to thyroid hormone
1Department of Internal Medicine II, Hokkaido University School of Medicine, Sapporo, Japan.
Human Genetics
|March 1, 1996
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.