Associated Papers
Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.
Gueuning M et al.
Blood Advances, 2026
41213005 (PubMed )
Supplement: BLOODA_ADV-2025-017463-mmc2.xlsx › Table11
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2
Association study of common KLF1 variants with Hb F and Hb A2 levels in β-thalassaemia carriers of Portuguese ancestry.
Manco L et al.
Journal of Genetics, 2024
Identification and Functional Analysis of Known and New Mutations in the Transcription Factor KLF1 Linked with β-Thalassemia-like Phenotypes.
Catapano R et al.
Biology, 2023
Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.
Jadhao S et al.
Blood Advances, 2022
35420653 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table3
RBCeq: A robust and scalable algorithm for accurate genetic blood typing.
Jadhao S et al.
Ebiomedicine, 2022
35033986 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table11
Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review.
Xu L et al.
Frontiers in Genetics, 2021
Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia.
Nicolau M et al.
Annals of Hematology, 2019
Survey and evaluation of mutations in the human KLF1 transcription unit.
Gnanapragasam MN et al.
Scientific Reports, 2018
Can mutations in the gene encoding transcription factor EKLF (Erythroid Krüppel-Like Factor) protect us against infectious and parasitic diseases?
Mikołajczyk K et al.
Postepy Higieny I Medycyny Doswiadczalnej (online), 2016
Mutation screening of the Krüppel-like factor 1 gene using single-strand conformational polymorphism in a cohort of Iranian β-thalassemia patients.
Zaker-Kandjani B et al.
Hemoglobin, 2015
Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1.
Helias V et al.
Human Mutation, 2013
Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.
Satta S et al.
Haematologica, 2011
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.
Borg J et al.
Nature Genetics, 2010
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