Fanis, Pavlos

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