Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal.

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Article

Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal.

British journal of haematology - 1 Apr 1999

Cabeda J M, Correia C, Estevinho A, Simões C, Amorim M L, Pinho L, Justiça B

Abstract excerpt

We characterized the genetic nature of beta-thalassaemia in northern Portugal. Of the 164 patients studied three were beta-thalassaemia major cases (one IVS-1-6/beta degrees 39 and two homozygous IVS-1-110). The analysis of the frequency of each mutation in the families revealed that the codon 6(...

Topics

Adolescent
Adult
Base Sequence
Female
Gene Frequency
Genetic Testing
Globins
Haplotypes
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Portugal
Sequence Analysis
beta-Thalassemia

Source

Open in PubMed

Identifiers

PMID: 10233364

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-10233364-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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