Article
Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis.
The Journal of clinical investigation - 1 Sept 1991
Coetzer T L, Sahr K, Prchal J, Blacklock H, Peterson L, Koler R, Doyle J, Manaster J, Palek J
Abstract excerpt
Hereditary elliptocytosis (HE) Sp alpha I/74 is a disorder associated with defective spectrin (Sp) heterodimer self-association and an abnormal tryptic cleavage of the 80-kD alpha I domain of Sp resulting in increased amounts of a 74-kD peptide. The molecular basis of this disorder is heterogeneous and mutations in codons 28, 46, 48, and 49 (codons 22, 40, 42, and 43 in the previous nomenclature which did not...
Topics
- Base Sequence
- Codon
- Elliptocytosis, Hereditary
- Genetic Linkage
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Polymorphism, Restriction Fragment Length
- Protein Conformation