Mutations in Krüppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression
pmid: 24443441
Mutations in Krüppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression
Key Points KLF1 mutations cause severe congenital hemolytic anemia associated with a deficiency of red cell pyruvate kinase. A severe KLF1 deficiency causes hereditary persistence of embryonic globin synthesis.
- MRC Weatherall Institute of Molecular Medicine United Kingdom
- University of Oxford United Kingdom
- Ministry of Public Health Thailand
- Erasmus University Rotterdam Netherlands
- Medical Research Council United Kingdom
Adult, Erythrocyte Indices, Male, Anemia, Hemolytic, Erythrocytes, Adolescent, Molecular Sequence Data, EMC MGC-02-13-02, Kruppel-Like Transcription Factors, Infant, Gene Expression Regulation, Child, Preschool, Gene Order, Mutation, Humans, Female, Amino Acid Sequence, Child, Conserved Sequence, Fetal Hemoglobin, Protein Binding
Adult, Erythrocyte Indices, Male, Anemia, Hemolytic, Erythrocytes, Adolescent, Molecular Sequence Data, EMC MGC-02-13-02, Kruppel-Like Transcription Factors, Infant, Gene Expression Regulation, Child, Preschool, Gene Order, Mutation, Humans, Female, Amino Acid Sequence, Child, Conserved Sequence, Fetal Hemoglobin, Protein Binding
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