Generalized thyroid hormone resistance: identification of an arginine to cystine mutation in codon 315 of the c-erb A beta thyroid hormone receptor.

doi:10.1007/BF03344927

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Article

Generalized thyroid hormone resistance: identification of an arginine to cystine mutation in codon 315 of the c-erb A beta thyroid hormone receptor.

Journal of endocrinological investigation - 1 Sept 1992

Burman K D, Djuh Y Y, Nicholson D, Rhooms P, Wartofsky L, Fein H G, Usala S J, Hao E H, Bradley W E, Berard J

Abstract excerpt

The present report studies a large kindred (WR) with generalized thyroid hormone resistance that has varying degrees of neuropsychological dysfunction, hyperactivity, poor attention span, decreased IQ and/or abnormalities in spatial perception. In this kindred, there has been found tight linkage...

Topics

Arginine
Base Sequence
Codon
Cystine
DNA
Deoxyribonucleases, Type II Site-Specific
Drug Resistance
Genetic Linkage
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Proto-Oncogene Proteins

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Thyroid Hormone

Syndrome

Thyroid Hormones

Triiodothyronine

Source

Open in PubMed

Identifiers

PMID: 1358935
DOI: 10.1007/BF03344927

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1358935-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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