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beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.

Sickle-cell anemia results from an A leads to T transversion in the second nucleotide of codon 6 of the beta-globin gene. We now report an uncommon beta-thalassemia gene that contains a deletion of this nucleotide. Thus, one mutation (GAG leads to GTG) produces sickle-cell anemia, while the other (G...

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Autores principales: Kazazian, H H, Orkin, S H, Boehm, C D, Sexton, J P, Antonarakis, S E
Formato: Artigo
Lenguaje:Inglês
Publicado: 1983
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685822/
https://ncbi.nlm.nih.gov/pubmed/6310991
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