2011
Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing
Walker RH, Schulz VP, Tikhonova IR, Mahajan MC, Mane S, Muniz M, Gallagher PG. Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing. Movement Disorders 2011, 27: 539-543. PMID: 22038564, DOI: 10.1002/mds.24020.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