Article
An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells.
The Journal of clinical investigation - 1 Jan 1993
Conboy J G, Chasis J A, Winardi R, Tchernia G, Kan Y W, Mohandas N
Abstract excerpt
Multiple protein 4.1 isoforms are expressed in a variety of tissues through complex alternative pre-mRNA splicing events, one function of which is to regulate use of two alternative translation initiation signals. Late erythroid cells express mainly the downstream initiation site for synthesis of...
Topics
- B-Lymphocytes
- Base Sequence
- Codon
- Cytoskeletal Proteins
- Elliptocytosis, Hereditary
- Erythrocyte Membrane
- Fibroblasts
- Fluorescent Antibody Technique
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Neuropeptides
- Oligodeoxyribonucleotides