A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major.
Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.
Jun 22, 2019
Author information: Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. Abstract 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 […]