F Baklouti, M Morinière, A Haj-Khélil… - Blood Cells, Molecules, …, 2011 - Elsevier ... Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis. Faouzi Baklouti a , low asterisk , E-mail The ...
A Iolascon, MJ King, S Robertson… - Blood Cells, Molecules, …, 2011 - Elsevier ... Disruption of spectrin self-association leads to disorders characterized by abnormally shaped erythrocytes, particularly hereditaryelliptocytosis (HE) and, its aggravated form, poikilocytosis with fragmented red cells (HP) [1] and [5]. Spectrin mutants constitute a useful tool to ... Related articles - All 2 versions