Cargando…
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...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790707/ https://www.ncbi.nlm.nih.gov/pubmed/31115947 http://dx.doi.org/10.1002/humu.23817 |