Associated Papers
A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants.
Wang Y et al.
Bmc Medical Genomics, 2024
39135028 (PubMed )
Supplement: 12920_2024_1973_MOESM6_ESM.docx
Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.
Liang G et al.
Molecular Genetics and Genomics : Mgg, 2024
Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report.
Du Z et al.
Bmc Pediatrics, 2021
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
Park J et al.
Clinical Genetics, 2016
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