Article
Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.
The Journal of clinical investigation - 1 Sept 1990
Tse W T, Lecomte M C, Costa F F, Garbarz M, Feo C, Boivin P, Dhermy D, Forget B G
Abstract excerpt
alpha I/74 hereditary elliptocytosis (HE) is a subgroup of HE in which patients exhibit an impaired self-association of spectrin dimers and an abnormal proteolytic cleavage of the alpha I domain of spectrin. We studied a family in which the proband presented with a severe neonatal hemolytic anemi...
Topics
- Amino Acid Sequence
- Base Sequence
- Electrophoresis, Gel, Two-Dimensional
- Elliptocytosis, Hereditary
- Genetic Linkage
- Humans
- Macromolecular Substances
- Molecular Sequence Data
- Mutation
- Oligonucleotides
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length