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A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2.
An adult Algerian patient with homozygous beta thalassemia was found to have a unique beta thalassemia gene. Cloning and sequencing revealed that the only abnormality present in this beta gene is a transversion in the polypyrimidine stretch at the 3' end of the large intervening sequence (IVS 2...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
1988
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| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC336707/ https://ncbi.nlm.nih.gov/pubmed/3387213 |
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