Article
Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3' to the delta-globin gene.
Blood - 15 Jan 1992
Moi P, Loudianos G, Lavinha J, Murru S, Cossu P, Casu R, Oggiano L, Longinotti M, Cao A, Pirastu M
Abstract excerpt
We have previously described a family of Northern Sardinian descent in which the propositus was affected by thalassemia major resulting from compound heterozygosity for codon 39 nonsense mutation and the beta +IVS II nt 745 mutation and in which all heterozygotes for the beta +IVS II nt 745 mutat...
Topics
- Base Sequence
- Binding Sites
- DNA
- DNA Restriction Enzymes
- DNA-Binding Proteins
- Erythroid-Specific DNA-Binding Factors
- GATA1 Transcription Factor
- Globins
- Humans
- Italy
- Molecular Sequence Data
- Mutation