Tight linkage of the human c-erbA beta gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds.

doi:10.1007/BF03346792

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Article

Tight linkage of the human c-erbA beta gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds.

Journal of endocrinological investigation - 1 Mar 1991

Fein H G, Burman K D, Djuh Y Y, Usala S J, Bale A E, Weintraub B D, Smallridge R C

Abstract excerpt

Generalized thyroid hormone resistance recently was reported to map in a single kindred to the same chromosomal region as the c-erbA beta gene, which codes for a putative thyroid hormone receptor. Restriction fragment length polymorphisms (RFLPs) of c-erbA beta were linked with GTHR in three kindreds with variable neuropsychologic dysfunction; two unrelated kindreds have been reported to possess different single...

Topics

Base Sequence
Chromosome Mapping
Deoxyribonuclease BamHI
Deoxyribonucleases, Type II Site-Specific
Drug Resistance
ErbB Receptors
Genetic Linkage
Humans
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymorphism, Restriction Fragment Length

Proto-Oncogene Proteins

Receptors, Thyroid Hormone

Syndrome

Thyroid Diseases

Thyroid Hormones

Thyrotropin

Source

Open in PubMed

Identifiers

PMID: 1677017
DOI: 10.1007/BF03346792

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1677017-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Tight linkage of the human c-erbA beta gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds.PMID 1677017Read ↗

A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.Semantic proximity Read ↗

A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.Semantic proximity Read ↗

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

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.Semantic proximity Read ↗

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An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity.Semantic proximity Read ↗

A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone.Semantic proximity Read ↗

Correlations of language abnormalities with localization of mutations in the beta-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations.Semantic proximity Read ↗

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Thyroid hormone and DNA binding properties of a mutant c-erbA beta receptor associated with generalized thyroid hormone resistance.Semantic proximity Read ↗

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