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A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2.

An adult Algerian patient with homozygous beta thalassemia was found to have a unique beta thalassemia gene. Cloning and sequencing revealed that the only abnormality present in this beta gene is a transversion in the polypyrimidine stretch at the 3' end of the large intervening sequence (IVS 2...

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Detalhes bibliográficos
Main Authors: Beldjord, C, Lapoumeroulie, C, Pagnier, J, Benabadji, M, Krishnamoorthy, R, Labie, D, Bank, A
Formato: Artigo
Idioma:Inglês
Publicado em: 1988
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC336707/
https://ncbi.nlm.nih.gov/pubmed/3387213
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