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.
P Jarolim, … , V Brabec, J Palek
P Jarolim, … , V Brabec, J Palek
Published March 1, 1995
Citation Information: J Clin Invest. 1995;95(3):941-947. https://doi.org/10.1172/JCI117802.
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