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Thalassemia: genotypes and phenotypes

โœ Scribed by Dimitris Loukopoulos


Publisher
Springer
Year
1991
Tongue
English
Weight
605 KB
Volume
62
Category
Article
ISSN
0939-5555

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Heterozygous ฮฒ-thalassemia with thalasse
โœ Gasperini, D.; Perseu, L.; Melis, M.A.; Maccioni, L.; Sollaino, M.C.; Paglietti, ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 54 KB

In this study we investigated the molecular bases of the beta-thalassemia intermedia phenotype in six patients belonging to two unrelated families of Sardinian descent. Sequence analysis of the beta globin gene from these patients detected, as the sole abnormality, the heterozygosity for the codon 3