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Article

Isolation and characterization of the translation product of a beta-globin gene nonsense mutation (beta 121 GAA----TAA).

British journal of haematology - 1 Aug 1990

Adams J G, Steinberg M H, Kazazian H H

Abstract excerpt

The beta o-thalassaemia gene of an individual who was a mixed heterozygote for this allele (GAA to TAA in codon 121) and beta(+)-thalassaemia (IVS-1 position 110 G to A) was examined to determine if the beta o-thalassaemia allele directed the synthesis of any detectable protein product. This beta o-thalassaemia allele was of particular interest, because it is the only example of a premature chain termination...

Topics

Alleles
Amino Acids
Chromatography, High Pressure Liquid
Codon
Female
Genes
Globins
Humans
Mutation
Protein Biosynthesis
Thalassemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 2207008
DOI: 10.1111/j.1365-2141.1990.tb07799.x

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2207008-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Isolation and characterization of the translation product of a beta-globin gene nonsense mutation (beta 121 GAA----TAA).PMID 2207008Read ↗

A single nucleotide deletion in codon 123 of the beta-globin gene causes an inclusion body beta-thalassaemia trait: a novel elongated globin chain beta Makabe.Semantic proximity Read ↗

Human alpha2-globin nonsense-mediated mRNA decay induced by a novel alpha-thalassaemia frameshift mutation at codon 22.Semantic proximity Read ↗

Two beta-thalassemia mutations in Japan: codon 121 (GAA----TAA) and IVS-I-130 (G----C).Semantic proximity Read ↗

A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype.Semantic proximity Read ↗

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