1996
Genomic Organization and 5′-Flanking DNA Sequence of the Murine Stomatin Gene (Epb72)
Gallagher P, Turetsky T, Mentzer W. Genomic Organization and 5′-Flanking DNA Sequence of the Murine Stomatin Gene (Epb72). Genomics 1996, 34: 410-412. PMID: 8786142, DOI: 10.1006/geno.1996.0304.Peer-Reviewed Original ResearchConceptsStomatin geneDNA sequencesPotential DNA-binding proteinsIntegral membrane proteinsDNA-binding proteinsGenomic DNA sequencesHousekeeping gene promoterGenomic organizationExon structureGenomic structureChromosomal genesMembrane proteinsGene promoterConsensus sequenceGenomic DNAProtein structureGenesHereditary stomatocytosisSequenceProteinErythrocyte membranesStomatinCloningExonsPromoter
1991
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.
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