A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major. [electronic resource]
- Human mutation 10 2019
- 1768-1780 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.23817 doi
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