Article
Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.
Blood - 1 Jul 1994
Parquet N, Devaux I, Boulanger L, Galand C, Boivin P, Lecomte M C, Dhermy D, Garbarz M
Abstract excerpt
Six individuals with hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP) from three unrelated families were evaluated. Defects in the ability of spectrin (Sp) to undergo self-association were present, and associated with increased recovery of the Sp alpha I 74-kD fragment after...
Topics
- Aged
- Alleles
- Base Sequence
- Binding Sites
- Child, Preschool
- DNA, Complementary
- Elliptocytosis, Hereditary
- Erythrocyte Deformability
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Protein Folding
- Spectrin