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Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals
Beta-hemoglobinopathies become prominent after birth due to a switch from γ-globin to the mutated β-globin. Haploinsufficiency for the erythroid specific indispensable transcription factor Krueppel-like factor 1 (KLF1) is associated with high persistence of fetal hemoglobin (HPFH). The In(Lu) phenot...
Autores principales: | Eernstman, Jesse, Veldhuisen, Barbera, Ligthart, Peter, von Lindern, Marieke, van der Schoot, C. Ellen, van den Akker, Emile |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8448862/ https://www.ncbi.nlm.nih.gov/pubmed/34535703 http://dx.doi.org/10.1038/s41598-021-97149-y |
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