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. Peptide and DNA sequencing indicated that the responsible mutation is alpha 791 Asp----Glu (GAC----GAA). As in most...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.