- A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis. Jarolim, P., Rubin, H.L., Brabec, V., Palek, J. J. Clin. Invest. (1995)