A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin
Shan Li, Ping Guo, Leyuan Mi, Xiaojing Chai, Kewang Xi, Ting Liu, Lu Li, Juan Li
Topics & Concepts
Hereditary spherocytosisMutationSpherocytosisProbandSpectrinNonsense mutationAnkyrinGeneticsHemolytic anemiaSanger sequencingBiologyPathogenesisImmunologyMolecular biologyGeneMissense mutationCellCytoskeletonSpleenSplenectomyErythrocyte Function and PathophysiologyBlood properties and coagulationCaveolin-1 and cellular processes