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A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major
We describe the identification of a novel missense mutation in the second zinc finger of KLF1 in two siblings who, based on their genotype, are predicted to suffer from beta thalassemia major but are, in fact, transfusion‐free and in good health. These individuals, as well as two additional members...
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| Publicado no: | Hum Mutat |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6790707/ https://ncbi.nlm.nih.gov/pubmed/31115947 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23817 |
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