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
A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
Kager L et al.
Hemasphere, 2024
Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination.
Kim N et al.
Diagnostics (basel, Switzerland), 2023
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 Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature.
Wang D et al.
Frontiers in Pharmacology, 2021
34335240 (PubMed )
Supplement: Table1.DOCX
Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family.
Sun Q et al.
Hematology (amsterdam, Netherlands), 2019
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.
Wang R et al.
Science China. Life Sciences, 2018
Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family.
Shin S et al.
Medicine, 2018
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