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 ResearchAn 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 Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.
Garbarz M, Tse WT, Gallagher PG, Picat C, Lecomte MC, Galibert F, Dhermy D, Forget BG. Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation. Journal Of Clinical Investigation 1991, 88: 76-81. PMID: 2056132, PMCID: PMC296005, DOI: 10.1172/jci115307.Peer-Reviewed Original ResearchConceptsBeta-spectrin chainBeta-spectrin geneCDNA amplification productsAmino acidsExon YGenomic DNANucleotide sequencingExample of exonMolecular defectsAnalysis of cDNAAmplification productsHereditary elliptocytosisConsensus splice sitesNovel amino acidCarboxy terminusIntron downstreamSplice siteSplice site mutationSouthern blotExonsExon skipReticulocyte RNACDNAPenultimate exonSite mutation