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 ResearchConceptsBeta chainSpectrin NiceAlpha chainPeripheral bloodFrameshift mutationPolymerase chain reaction amplificationAllele-specific oligonucleotide hybridizationChain reaction amplificationBeta-spectrin chainBeta-spectrin geneAn Insertional Frameshift Mutation of the β-Spectrin Gene Associated With Elliptocytosis in Spectrin Nice (β220 216)
Tse W, Gallagher P, Pothier B, Costa F, Scarpa A, Delaunay J, Forget B. An Insertional Frameshift Mutation of the β-Spectrin Gene Associated With Elliptocytosis in Spectrin Nice (β220 216). Blood 1991, 78: 517-523. DOI: 10.1182/blood.v78.2.517.517.Peer-Reviewed Original ResearchSpectrin NiceBeta chainAlpha chainPeripheral bloodFrameshift mutationPolymerase chain reaction amplificationAllele-specific oligonucleotide hybridizationChain reaction amplificationBeta-spectrin chainNovo mutations