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

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

American journal of hematology - 1 Mar 1995

Landin B, Rudolphi O, Ek B

Abstract excerpt

An initiation codon mutation ATG-->ATA of the beta-globin gene was found in seven members of three generations of a family living in northern Sweden. This mutation, which has not previously been described, changes the initiation codon for methionine into a codon for isoleucine and will then result in a beta zero-thalassemic phenotype. The affected family members all present hematological findings typical for...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Aged
Share to Amino Acid Sequence

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

Share to Base Sequence

Share to Child, Preschool

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 7864023
DOI: 10.1002/ajh.2830480304

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

Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family.PMID 7864023Read ↗

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

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

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

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

A new beta-thalassemia mutation (initiation codon ATG----GTG) found in the Japanese population.Semantic proximity Read ↗

Detection of a Rare Mutation in the Initiation Codon of the β-Globin Gene (HBB:C.2T > C; P.Met1Thr).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 ↗

Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene.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-thalassemia due to a novel nonsense mutation at codon 37 (TGG-->TAG) found in an Afghanistani family.Semantic proximity Read ↗

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

Historical note: the beta-thalassemia allele in the noble Russian family Lermontov is identified as the ATG-->ACG change in the initiation codon.Semantic proximity Read ↗

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