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
1999
Molecular diagnosis of hemoglobinopathies and other red blood cell disorders.
Arcasoy MO, Gallagher PG. Molecular diagnosis of hemoglobinopathies and other red blood cell disorders. Seminars In Hematology 1999, 36: 328-39. PMID: 10530715.Peer-Reviewed Original ResearchConceptsAppropriate prenatal counselingAppropriate patient educationRed blood cell disordersMolecular diagnosisBlood cell disordersClinical outcomesPatient educationRisk individualsCell disordersClinical practicePrenatal counselingRapid genetic diagnosisRapid diagnosisDiagnosisEarly detectionErythrocyte disordersRisk couplesDisordersPrenatal diagnosisGenetic diagnosisHemoglobinopathiesMolecular biology