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

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

The erythroid transcriptional factor Krüppel-like factor 1 (KLF1) is a master regulator of erythropoiesis. Mutations that cause KLF1 haploinsufficiency have been linked to increased fetal hemoglobin (HbF) and hemoglobin A<sub>2</sub> (HbA<sub>2</sub>) levels with ameliorative...

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Bibliographic Details
Main Authors: Rosa Catapano, Raffaele Sessa, Silvia Trombetti, Elena Cesaro, Filippo Russo, Paola Izzo, Alexandros Makis, Michela Grosso
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Biology
Subjects:
KLF1
thalassemia
globin gene switching
gene expression
HbF
HbA<sub>2</sub>
Online Access:https://www.mdpi.com/2079-7737/12/4/510

Internet

https://www.mdpi.com/2079-7737/12/4/510

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