Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex
| Autor: | L. Pressley, Doug Higgs, B. Aldridge, J. B. Clegg, D.J. Weatheral, A. Metaxatou-Mavromati |
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| Jazyk: | angličtina |
| Rok vydání: | 1980 |
| Předmět: | |
| Popis: | A new deletion causing alpha thalassemia has been characterised in a Greek family. Detailed mapping of the alpha gene complex shows that the deletion extends for 5.2 kb and removes the whole of the alpha 2 gene and the 5' end of the alpha 1 gene. The affected chromosome, therefore produces no normal alpha chains and results in a phenotype of alpha thalassemia 1. |
| Databáze: | OpenAIRE |
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