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.
Wilmotte R, Maréchal J, Morlé L, Baklouti F, Philippe N, Kastally R, Kotula L, Delaunay J, Alloisio N.
Wilmotte R, et al. Among authors: baklouti f.
J Clin Invest. 1993 May;91(5):2091-6. doi: 10.1172/JCI116432.
J Clin Invest. 1993.
PMID: 8486776
Free PMC article.
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. Morle, J. Marechal, A.-F. Roux, M.-T. Ducluzeau, D. Guetarni, B. Pothier, F …
The alpha V/41 polymorphism of erythroid alpha-spectrin has been characterized initially by an increased susceptibility to proteolysis of th …