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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...

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Detalles Bibliográficos
Autores principales: Eernstman, Jesse, Veldhuisen, Barbera, Ligthart, Peter, von Lindern, Marieke, van der Schoot, C. Ellen, van den Akker, Emile
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
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