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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 restriction endonucleases, as well as hybridization with synthetic nucleotide probes and sequencing of amplified DNA. Four...

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PMID: 8454469
DOI: 10.3109/03630269308998883

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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.

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