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Article

Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene.

Metabolism: clinical and experimental - 1 Nov 1991

Li P, Janssen O E, Takeda K, Bertenshaw R H, Refetoff S

Abstract excerpt

Thyroxine-binding globulin (TBG) is the major thyroid hormone transport protein. Several inherited TBG variants resulting in partial and complete TBG deficiency have been shown to be caused by one or two nucleotide replacements in the coding regions of the TBG gene. Each manifests as a different change in the physical properties and/or biological function of the mature TBG protein. We now report sequencing of the...

Topics

Base Sequence
Chromosome Deletion
Humans
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Thyroid Function Tests
Thyroxine-Binding Proteins

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1943753
DOI: 10.1016/0026-0495(91)90221-h

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1943753-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene.PMID 1943753Read ↗

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