2008
Ankyrin‐linked hereditary spherocytosis in an African–American kindred
Sangerman J, Maksimova Y, Edelman EJ, Morrow JS, Forget BG, Gallagher PG. Ankyrin‐linked hereditary spherocytosis in an African–American kindred. American Journal Of Hematology 2008, 83: 789-794. PMID: 18704959, PMCID: PMC11304496, DOI: 10.1002/ajh.21254.Peer-Reviewed Original ResearchConceptsInitiator methionineNull allelesErythrocyte membrane protein genesMembrane protein geneRabbit reticulocyte lysateTissue-specific promotersErythrocyte membrane skeletonExon 1 sequencesIsoform diversityAlternative splicingTranslation initiationProtein geneAnkyrin geneMembrane skeletonAlternate polyadenylationPlasma membraneReticulocyte lysateMethionine mutationCOOH terminusErythroid cellsDownstream codonsGenomic DNANumerous isoformsAnkyrinGenes
1997
Spectrin St Claude, a Splicing Mutation of the Human α-Spectrin Gene Associated With Severe Poikilocytic Anemia
Fournier C, Nicolas G, Gallagher P, Dhermy D, Grandchamp B, Lecomte M. Spectrin St Claude, a Splicing Mutation of the Human α-Spectrin Gene Associated With Severe Poikilocytic Anemia. Blood 1997, 89: 4584-4590. PMID: 9192783, DOI: 10.1182/blood.v89.12.4584.Peer-Reviewed Original ResearchConceptsAlpha-spectrin chainAcceptor splice siteSplice siteSplicing mutationAlpha-spectrin geneΑ-spectrin geneExon 20New acceptor splice siteMolecular basisTermination codonNovel mRNAInsertion upstreamTract mutationsTryptic digestionMutationsG mutationGenesMRNAHeterozygous parentsErythrocyte membranesMembraneFrame skippingCodonSitesVariants