2017
Hereditary xerocytosis: Diagnostic considerations
Risinger M, Glogowska E, Chonat S, Zhang K, Dagaonkar N, Joiner CH, Quinn CT, Kalfa TA, Gallagher PG. Hereditary xerocytosis: Diagnostic considerations. American Journal Of Hematology 2017, 93: e67-e69. PMID: 29210095, PMCID: PMC5807085, DOI: 10.1002/ajh.24996.Peer-Reviewed Original Research
2004
Update on the clinical spectrum and genetics of red blood cell membrane disorders.
Gallagher PG. Update on the clinical spectrum and genetics of red blood cell membrane disorders. Current Hematology Reports 2004, 3: 85-91. PMID: 14965483.Peer-Reviewed Original ResearchConceptsStructure/function relationshipsSignificant genetic heterogeneityPrecise genetic defectGenetic lociMolecular biologyRed blood cell membrane disordersSplicing mutationGene deletionNonsense mutationCell membraneFunction relationshipsGenetic heterogeneityGenetic defectsHereditary elliptocytosisMembrane disordersRed blood cell membraneBlood cell membranesHereditary pyropoikilocytosisMutationsBetter understandingErythrocyte membranesMembraneLociGeneticsBiology