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Article

A novel missense mutation in the thyroid hormone receptor beta gene in a kindred with resistance to thyroid hormone.

Human genetics - 1 Mar 1996

Kijima H, Kubo M, Ishizuka T, Kakinuma M, Koike T

Abstract excerpt

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...

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Identifiers

PMID: 8786093
DOI: 10.1007/BF02185783

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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