Article
Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.
Blood - 1 Aug 1992
Alloisio N, Wilmotte R, Morlé L, Baklouti F, Maréchal J, Ducluzeau M T, Denoroy L, Féo C, Forget B G, Kastally R
Abstract excerpt
Spectrin Jendouba (alpha II/31) was found in a Tunisian family. In the heterozygous state, it is associated with asymptomatic elliptocytosis and a minimal defect in spectrin dimer self-association. On partial digestion of spectrin with trypsin, an abnormal cleavage appeared following Lys 788. Pep...
Topics
- Alleles
- Base Sequence
- Child
- Electrophoresis, Gel, Two-Dimensional
- Electrophoresis, Polyacrylamide Gel
- Elliptocytosis, Hereditary
- Exons
- Female
- Genetic Variation
- Humans
- Macromolecular Substances
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides