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The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population.

The predominant beta-thalassemia in Sardinia is the beta 0 type in which no beta-globin chains are synthesized in the homozygous state. We determined the beta-thalassemia mutations in this population by the oligonucleotide-probe method and defined the chromosome haplotypes on which the mutation resi...

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Détails bibliographiques
Publié dans:Proc Natl Acad Sci U S A
Auteurs principaux: Pirastu, M, Galanello, R, Doherty, M A, Tuveri, T, Cao, A, Kan, Y W
Format: Artigo
Langue:Inglês
Publié: National Academy of Sciences 1987
Sujets:
Accès en ligne:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC304764/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3033668/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.84.9.2882
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