Single base mutation in the hormone binding domain of the thyroid hormone receptor beta gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis.

doi:10.1016/0006-291x(91)90151-v

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Article

Single base mutation in the hormone binding domain of the thyroid hormone receptor beta gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis.

Biochemical and biophysical research communications - 31 Jul 1991

Boothroyd C V, Teh B T, Hayward N K, Hickman P E, Ward G J, Cameron D P

Abstract excerpt

Thyroid hormone resistance is a syndrome of considerable clinical heterogeneity. Three mutations in the c-erb A beta gene encoding the human beta thyroid hormone receptor have been described in different kindreds. We report here, in a family affected with peripheral thyroid hormone resistance, a...

Topics

Adult
Base Sequence
Cell Line
DNA
Female
Humans
Male
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Proto-Oncogene Proteins
Proto-Oncogenes

Source

Open in PubMed

Identifiers

PMID: 1677564
DOI: 10.1016/0006-291x(91)90151-v

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1677564-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Receptor, ErbB-2

Receptors, Thyroid Hormone

Reference Values