Article
Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis.
Blood - 15 Jan 2001
Wandersee N J, Roesch A N, Hamblen N R, de Moes J, van der Valk M A, Bronson R T, Gimm J A, Mohandas N, Demant P, Barker J E
Abstract excerpt
Mutations affecting the conversion of spectrin dimers to tetramers result in hereditary elliptocytosis (HE), whereas a deficiency of human erythroid alpha- or beta-spectrin results in hereditary spherocytosis (HS). All spontaneous mutant mice with cytoskeletal deficiencies of spectrin reported to date have HS. Here, the first spontaneous mouse mutant, sph(Dem)/ sph(Dem), with severe HE is described. The sph(Dem)...
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