A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor.

doi:10.1210/mend-5-3-327

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Article

A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor.

Molecular endocrinology (Baltimore, Md.) - 1 Mar 1991

Usala S J, Menke J B, Watson T L, Wondisford F E, Weintraub B D, Bérard J, Bradley W E, Ono S, Mueller O T, Bercu B B

Abstract excerpt

Different point mutations have been identified in the T3-binding domain of the c-erbA beta thyroid hormone receptor gene that are associated with variant phenotypes of generalized thyroid hormone resistance (GTHR). In most cases of GTHR, heterozygotes are affected; a single mutant allele results in the inhibition of the function of normal thyroid hormone receptors. We report here a novel genetic abnormality, a...

Topics

Alleles
Base Composition
Base Sequence
DNA
Drug Resistance
Genetic Linkage
Homozygote
Humans
In Vitro Techniques
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Phenotype

Proto-Oncogene Proteins

Receptors, Thyroid Hormone

Thyroid Hormones

Thyroxine

Triiodothyronine

Source

Open in PubMed

Identifiers

PMID: 1653889
DOI: 10.1210/mend-5-3-327

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1653889-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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