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alpha-Thalassemia caused by an unstable alpha-globin mutant.
In a previous study, molecular cloning of the alpha-globin genes from a patient with nondeletion Hb-H disease (genotype--/alpha alpha) showed that a single nucleotide mutation (CTG to CCG) in one of the genes resulted in a leucine to proline substitution. This paper describes the approach we used to...
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| Publicado no: | J Clin Invest |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
1983
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC436893/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6826718/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI110790 |
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