Multiple mutations produce delta beta 0 thalassemia in Sardinia.
Science
; 223(4639): 929-30, 1984 Mar 02.
Article
em En
| MEDLINE
| ID: mdl-6198720
ABSTRACT
In Sardinia the common form of beta thalassemia is a beta 0 thalassemia due to a nonsense mutation at codon 39. delta beta 0 Thalassemia is rare in Sardinia and is associated with increased production of hemoglobin F of the A gamma type. In this study we used a synthetic oligomer assay and detected the beta 39 nonsense mutation on the delta beta 0 thalassemia chromosome. Hence at least two different mutations have occurred on this chromosome; one that increases A gamma globin synthesis and another that silences the beta globin gene.
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Base de dados:
MEDLINE
Assunto principal:
Talassemia
/
Globinas
/
Mutação
Limite:
Humans
País como assunto:
Europa
Idioma:
En
Ano de publicação:
1984
Tipo de documento:
Article