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The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.

Sardinian delta beta 0-thalassemia is an inherited syndrome characterized by the inactivity of the beta-globin gene and the persistent activity of the fetal gamma-globin genes, particularly the A gamma-globin gene. Previous mapping studies with restriction enzymes failed to show any abnormality in t...

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Détails bibliographiques
Auteurs principaux: Guida, S, Giglioni, B, Comi, P, Ottolenghi, S, Camaschella, C, Saglio, G
Format: Artigo
Langue:Inglês
Publié: 1984
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC557427/
https://ncbi.nlm.nih.gov/pubmed/6327288
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