An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216).
Tse W, Gallagher P, Pothier B, Costa F, Scarpa A, Delaunay J, Forget B. An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216). Blood 1991, 78: 517-23. PMID: 2070088, DOI: 10.1182/blood.v78.2.517.bloodjournal782517.Peer-Reviewed Original Research