Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions.

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Article

Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions.

American journal of human genetics - 1 Apr 1991

Bertenshaw R, Takeda K, Refetoff S

Abstract excerpt

Thyroxine-binding globulin (TBG) is a liver glycoprotein that transports thyroid hormone in serum. In 1987 a variant TBG was discovered in an infant born in Quebec, following an investigation prompted by the finding of low blood thyroxine (T4) level on screening for neonatal hypothyroidism. This...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Codon
Female
Genetic Variation
Humans
Infant, Newborn
Isoelectric Focusing
Male
Molecular Sequence Data
Mutation
Pedigree
Quebec
Thyroxine-Binding Proteins

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PMID: 1901689
PMCID: PMC1682945

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1901689-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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