Identification and Functional Analysis of Known and New Mutations in the Transcription Factor KLF1 Linked with β-Thalassemia-like Phenotypes

SIMPLE SUMMARY: A key regulator of erythropoiesis is the erythroid transcriptional factor Krüppel-like factor 1 (KLF1). Increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2) levels have been associated with KLF1 haploinsufficiency mutations and have been shown to mitigate the severity of β-thala...

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Detalles Bibliográficos
Autores principales: Catapano, Rosa, Sessa, Raffaele, Trombetti, Silvia, Cesaro, Elena, Russo, Filippo, Izzo, Paola, Makis, Alexandros, Grosso, Michela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10135830/
https://www.ncbi.nlm.nih.gov/pubmed/37106711
http://dx.doi.org/10.3390/biology12040510

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10135830/
https://www.ncbi.nlm.nih.gov/pubmed/37106711
http://dx.doi.org/10.3390/biology12040510

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