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
SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.
Meglic A et al.
Nefrologia, 0
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