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Promoter mutations producing mild β-thalassaemia in the Italian population

✍ Scribed by Alessandra Meloni; M. Cristina Rosatelli; Valeria Faà; Raffaela Sardu; Luisella Saba; Stefania Murru; Giuseppina V. Sciarratta; Maurizia Baldi; Nunzia Tannoia; Antonio Vitucci; Professor Antonio Cao


Book ID
114713065
Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
650 KB
Volume
80
Category
Article
ISSN
0007-1048

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In order to delineate the spectrum and the relative abundance of beta-globin gene defects causing thalassaemia in the Portuguese population, a representative sample was analysed including 51 beta-thalassaemia carriers along with 26 patients representing different clinical phenotypes. Seven mutations