Genotype‐phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients - Andolfo, Immacolata; Russo, Roberta; Rosato, Barbara Eleni; Manna, Francesco; Gambale, Antonella; Brugnara, Carlo; Iolascon, Achille (American journal of hematology, 2018)
Keywords: Anemia; Anemia, Hemolytic, Congenital - genetics; Cohort Studies; Correlation analysis; Female; Genetic Association Studies; Genotypes; Hematology; Hemolytic anemia; Humans; Hydrops Fetalis - genetics; Intracellular; Ion Channels - genetics; Male; Membrane permeability; Missense mutation; Mutation; Phenotypes; Potassium channels (calcium-gated); Protein Domains - genetics; Retrospective Studies; Risk Assessment