Associated Papers
Enhancement of PRMT6 binding to a novel germline GATA1 mutation associated with congenital anemia.
Lu Y et al.
Haematologica, 2024
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.
Bastida JM et al.
Cells, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.
Eernstman J et al.
Scientific Reports, 2021
GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis.
Saultier P et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
The Pleiotropic Effects of GATA1 and KLF1 in Physiological Erythropoiesis and in Dyserythropoietic Disorders.
Barbarani G et al.
Frontiers in Physiology, 2019
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.
Johnson B et al.
Research and Practice in Thrombosis and Haemostasis, 2018
GATA1 gene variants associated with thrombocytopenia and anemia.
Freson K et al.
Platelets, 2017
Identification of new KLF1 and LU alleles during the resolution of Lutheran typing discrepancies.
Garcia-Sanchez F et al.
Transfusion, 2016
Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
Favier R et al.
British Journal of Haematology, 2015
A novel 519_525dup mutation of KLF1 gene identified in a Chinese blood donor with Lu(a-b-) phenotype.
Wang Z et al.
Transfusion, 2013
A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia.
Singleton BK et al.
British Journal of Haematology, 2013
Blood group phenotypes resulting from mutations in erythroid transcription factors.
Singleton BK et al.
Current Opinion in Hematology, 2012
The functional importance of blood group-active molecules in human red blood cells.
Anstee DJ
Vox Sanguinis, 2011
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