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Article

An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.

Biochemical and biophysical research communications - 29 Jul 1994

Sunthornthepvarakul T, Angkeow P, Weiss R E, Hayashi Y, Refetoff S

Abstract excerpt

Familial dysalbuminemic hyperthyroxinemia (FDH) is the most common form of inherited increase of serum thyroxine in Caucasians. It is the result of increased thyroxine-binding to serum proteins and is inherited as a dominant trait. The entire coding region of the albumin gene of a subject with FDH was sequenced. A single nucleotide substitution, G to A transition in codon 218, was found in one of the two alleles,...

Topics

Arginine
Codon
DNA, Complementary
Histidine
Humans
Hyperthyroxinemia
Mutation
Pedigree
Phenotype
Serum Albumin
Thyroxine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Triiodothyronine, Reverse

Source

Identifiers

PMID: 8048949
DOI: 10.1006/bbrc.1994.1998

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8048949-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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