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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(-A) mutation was unexpectedly frequent (40%) and associated with the beta-globin haplotype E, and not with the usual...

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PMID: 10233364

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