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.

@article{Wilmotte1993LowEA,
  title={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.},
  author={Rick Wilmotte and Jo{\"e}lle Mar{\'e}chal and Laurette Morl{\'e} and Faouzi Baklouti and Nathalie Philippe and Radhia Kastally and Leszek Kotula and Jean Delaunay and Nicole Alloisio},
  journal={The Journal of clinical investigation},
  year={1993},
  volume={91 5},
  pages={2091-6}
}
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. Kastally, et al. 1991. J. Clin. Invest. 87:2169-2177). Until now, it has been found associated invariably with a low expression level of the corresponding alpha chain. Among 61 chromosomes investigated in… CONTINUE READING