PubMed · 2018 · 19 citations · 20 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPediatric GeneticsGenetic DisordersMutation AnalysisRed Blood Cell DisordersVariant DetectionErythrocyte Membrane DisordersErythrocyte Membrane GlycoproteinsGene Mutation DetectionMissense MutationsMutant DetectionMutationRed Blood Cell Membrane Defects
ANK1 and SPTB are the most common mutant genes in Chinese HS patients, mainly with missense mutations and nonsense mutations. There was no significant correlation between the mutation of HS related genes and the severity of HS.
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Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency
J. G. Murray, HL Rubin, WM Taylor et al. · Blood · 1996 · 131 citations · Full text