2018
Severe nondominant hereditary spherocytosis in an infant with coinheritance of three rare alpha‐spectrin gene defects
Bhatt N, Loew JM, Gallagher P, Mittal N. Severe nondominant hereditary spherocytosis in an infant with coinheritance of three rare alpha‐spectrin gene defects. Pediatric Blood & Cancer 2018, 66: e27480. PMID: 30255572, DOI: 10.1002/pbc.27480.Peer-Reviewed Original Research
1997
Amino‐acid substitution in α‐spectrin commonly coinherited with nondominant hereditary spherocytosis
Tse W, Gallagher P, Jenkins P, Wang Y, Benoit L, Speicher D, Winkelmann J, Agre P, Forget B, Marchesi S. Amino‐acid substitution in α‐spectrin commonly coinherited with nondominant hereditary spherocytosis. American Journal Of Hematology 1997, 54: 233-241. PMID: 9067503, DOI: 10.1002/(sici)1096-8652(199703)54:3<233::aid-ajh10>3.0.co;2-e.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAmino AcidsFemaleGenes, RecessiveHumansMalePoint MutationPolymorphism, GeneticSpectrinSpherocytosis, HereditaryConceptsHereditary spherocytosisAlpha-spectrin geneNumber of patientsSevere hemolytic anemiaAmino acid substitutionsHemolytic anemiaPatientsPatterns of transmissionDifferent kindredsPolymorphic variantsAffected individualsErythrocyte spectrinGene defectsGenomic DNA analysisTrue homozygotesDisordersSpherocytosisSpectrin chainsGenomic DNAAlpha-spectrinKindredsLinkage disequilibriumΑ-spectrinAmino acidsDomain peptide
1996
Ankyrin–1 mutations are a major cause of dominant and recessive hereditary spherocytosis
Eber S, Gonzalez J, Lux M, Scarpa A, Tse W, Dornwell M, Herbers J, Kugler W, Ozcan R, Pekrun A, Gallagher P, Schroter W, Forget B, Lux S. Ankyrin–1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nature Genetics 1996, 13: 214-218. PMID: 8640229, DOI: 10.1038/ng0696-214.Peer-Reviewed Original Research
1990
Clinical and molecular aspects of disorders of the erythrocyte membrane skeleton.
Gallagher PG, Tse WT, Forget BG. Clinical and molecular aspects of disorders of the erythrocyte membrane skeleton. Seminars In Perinatology 1990, 14: 351-67. PMID: 2287951.Peer-Reviewed Original Research