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...
Guardat en:
| Publicat a: | J Clin Invest |
|---|---|
| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
1983
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| Matèries: | |
| Accés en línia: | 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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