Associated Papers
Genotype clinical phenotype analysis of 35 cases of hereditary spherocytosis in children.
Duowen H et al.
Frontiers in Pediatrics, 2025
Genotype-degree of hemolysis correlation in hereditary spherocytosis.
Shi Y et al.
Bmc Genomics, 2023
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing.
Wang WJ et al.
Clinical Genetics, 2023
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 2021
Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.
Svidnicki MCCM et al.
Annals of Hematology, 2020
Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
Agarwal AM et al.
British Journal of Haematology, 2016
Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.
Yenchitsomanus PT et al.
Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2005
Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger.
Quilty JA et al.
Traffic (copenhagen, Denmark), 2000
Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus.
Miraglia del Giudice E et al.
British Journal of Haematology, 1997
Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.
Jarolim P et al.
Blood, 1995
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