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Article

An initiation codon mutation as a cause of beta-thalassemia in a Belgian family.

Hemoglobin - 1 Feb 1993

Wildmann C, Larondelle Y, Vaerman J L, Eeckels R, Martiat P, Philippe M

Abstract excerpt

Nine asymptomatic members of a family of Belgian origin, spanning three generations, present typical features of heterozygous beta-thalassemia. Since no mutation was detected with a large panel of oligonucleotide probes, the thalassemia gene was investigated by direct sequencing of DNA segments a...

Topics

Base Sequence
Belgium
Codon
DNA Mutational Analysis
Female
Gene Frequency
Globins
Haplotypes
Heterozygote
Humans
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymerase Chain Reaction

Protein Biosynthesis

beta-Thalassemia

Source

Identifiers

PMID: 8454468
DOI: 10.3109/03630269308998882

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8454468-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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