Article
Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.
The Journal of clinical investigation - 1 May 1993
Wilmotte R, Maréchal J, Morlé L, Baklouti F, Philippe N, Kastally R, Kotula L, Delaunay J, Alloisio N
Abstract excerpt
The alpha V/41 polymorphism of erythroid alpha-spectrin has been characterized initially by an increased susceptibility to proteolysis of the alpha IV-alpha V domain junction (Alloisio N., L. Morlé, J. Maréchal, A.-F. Roux, M.-T. Ducluzeau, D. Guetarni, B. Pothier, F. Baklouti, A. Ghanem, R. Kast...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- DNA
- Exons
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Peptide Mapping
- Point Mutation
- Polymerase Chain Reaction