A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major. [electronic resource]
Producer: 20200309Description: 1768-1780 p. digitalISSN:- 1098-1004
- Adult
- Alleles
- Biomarkers
- DNA Mutational Analysis
- Erythrocyte Indices
- Female
- Fetal Hemoglobin -- genetics
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genotype
- Humans
- Kruppel-Like Transcription Factors -- chemistry
- Male
- Middle Aged
- Models, Molecular
- Mutation
- Pedigree
- Phenotype
- Protein Conformation
- Severity of Illness Index
- Structure-Activity Relationship
- Symptom Assessment
- beta-Globins -- genetics
- beta-Thalassemia -- blood
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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