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 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. Kastall...

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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	Wilmotte, R, Maréchal, J, Morlé, L, Baklouti, F, Philippe, N, Kastally, R, Kotula, L, Delaunay, J, Alloisio, N
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1993
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288208/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8486776/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116432
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