Identification and characterization of a novel de novo mutation (L346V) in the thyroid hormone receptor beta gene in a family with generalized thyroid hormone resistance.

doi:10.1530/eje.0.1370370

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Article

Identification and characterization of a novel de novo mutation (L346V) in the thyroid hormone receptor beta gene in a family with generalized thyroid hormone resistance.

European journal of endocrinology - 1 Oct 1997

Macchia E, Gurnell M, Agostini M, Giorgilli G, Marcocci C, Valenti T M, Martino E, Chatterjee K K, Pinchera A

Abstract excerpt

We have investigated an Italian family with generalized resistance to thyroid hormone (RTH), consisting of two individuals with elevated serum thyroid hormones (TH) and a non-suppressed TSH, together with unaffected family members, for a mutation in the thyroid hormone receptor beta gene (hTR bet...

Topics

Adult
Alleles
Base Sequence
Child
Drug Resistance
Female
Gene Amplification
Humans
Male
Mutation
Pedigree
Receptors, Thyroid Hormone
Thyroid Hormones
Triiodothyronine

Source

Open in PubMed

Identifiers

PMID: 9368505
DOI: 10.1530/eje.0.1370370

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9368505-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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