Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 amplified by the polymerase chain reaction. A T-->C transition was detected in the translation initiation codon (ATG)....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to DNA Mutational Analysis
Share to Gene Frequency

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heterozygote

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 8454468
DOI: 10.3109/03630269308998882

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An initiation codon mutation as a cause of beta-thalassemia in a Belgian family.PMID 8454468Read ↗

An initiation codon mutation as a cause of a beta-thalassemia.Semantic proximity Read ↗

A novel initiation codon mutation (ATG-->ATT) in a beta-thalassemia patient.Semantic proximity Read ↗

A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene.Semantic proximity Read ↗

Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family.Semantic proximity Read ↗

Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A).Semantic proximity Read ↗

Beta-thalassaemia in indigenous Belgian families: identification of a novel mutation.Semantic proximity Read ↗

De novo mutation of the beta-globin gene initiation codon (ATG-->AAG) in a Northern European boy.Semantic proximity Read ↗

Beta-thalassaemia in indigenous Belgians: an update.Semantic proximity Read ↗

Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene.Semantic proximity Read ↗

De novo initiation codon mutation (ATG-->ACG) of the beta-globin gene causing beta-thalassemia in a Swiss family.Semantic proximity Read ↗

Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence.Semantic proximity Read ↗

[New single point mutation at the initiation codon (ATG-AGG) identified in amplified genomic DNA of a Chinese with beta-thalassaemia].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.