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Article

Beta-thalassemia mutations in the Portuguese; high frequencies of two alleles in restricted populations.

Hemoglobin - 1 Feb 1993

Tamagnini G P, Gonçalves P, Ribeiro M L, Kaeda J, Kutlar F, Baysal E, Huisman T H

Abstract excerpt

We report the characterization of seven different beta-thalassemia mutations in 131 newly diagnosed Portuguese beta-thalassemia heterozygotes. Methodology included the detection of abnormal fragments by agar gel electrophoresis of PCR-amplified DNA fragments after digestion with specific restrict...

Topics

Alleles
Base Sequence
Codon
DNA Mutational Analysis
Female
Globins
Heterozygote
Humans
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Portugal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

beta-Thalassemia

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Identifiers

PMID: 8454469
DOI: 10.3109/03630269308998883

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8454469-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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