Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).
We studied the molecular basis of transfusion-dependent hemolytic anemia in an infant who rapidly developed the phenotype of beta thalassemia major. DNA sequence of one beta-globin gene of the proband revealed two mutations, one for the moderately unstable hemoglobin (Hb) Köln and another for a nove...
Zapisane w:
| Wydane w: | J Clin Invest |
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| Główni autorzy: | , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society for Clinical Investigation
1995
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295500/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7860732/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117691 |
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