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Article

[Inherited abnormality of thyroxine-binding globulin: its gene abnormality and pathogenesis].

Nihon rinsho. Japanese journal of clinical medicine - 1 Apr 1994

Murata Y, Mori Y, Miura Y

Abstract excerpt

Inherited TBG abnormalities manifest complete deficiency (CD), partial deficiency (PD) or excess in blood. Analysis of the TBG gene revealed that all cases with CD and PD studied so far had mutations within the exon. A nucleotide substitution was found in each case of PD and one of three cases of CD. In two other cases of CD, there was a nucleotide deletion. By the transfection study, it was revealed that TBG-CD...

Topics

Humans
Mutation
Thyroxine-Binding Proteins
Transfection

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8196174

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8196174-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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