Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain.

doi:10.1172/JCI115542

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Article

Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain.

The Journal of clinical investigation - 1 Dec 1991

Parrilla R, Mixson A J, McPherson J A, McClaskey J H, Weintraub B D

Abstract excerpt

Genetic analysis in our laboratory of families with generalized thyroid hormone resistance (GTHR) has demonstrated tight linkage with a locus, c-erbA beta, encoding a nuclear T3 receptor. Three point mutations and two deletions in this locus have previously been reported in affected individuals in unrelated families as potential molecular bases for this disorder. In the present study, we have used direct...

Topics

Adolescent
Adult
Base Sequence
Binding Sites
Child
Child, Preschool
Drug Resistance
Exons
Female
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Proto-Oncogene Proteins

Receptors, Thyroid Hormone

Thyroid Gland

Source

Open in PubMed Open full text

Identifiers

PMID: 1661299
DOI: 10.1172/JCI115542
PMCID: PMC295818

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1661299-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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