Associated Papers
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.
Qin L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
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
Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia.
Chiguer A et al.
Hemoglobin, 2024
Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.
Liang G et al.
Molecular Genetics and Genomics : Mgg, 2024
Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.
Yang L et al.
Clinical Genetics, 2022
Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report.
Xu C et al.
Experimental and Therapeutic Medicine, 2022
35949318 (PubMed )
Supplement: Supplementary_Data.pdf
Facilitating EMA binding test performance using fluorescent beads combined with next-generation sequencing.
Glenthøj A et al.
Ejhaem, 2021
Hereditary Spherocytosis as an Atypical Presentation of Anemia in Ulcerative Colitis.
Cho M et al.
Jpgn Reports, 2021
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
Genotype-phenotype correlation in children with hereditary spherocytosis.
Tole S et al.
British Journal of Haematology, 2020
Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.
Aggarwal A et al.
British Journal of Haematology, 2020
Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis.
Fan LL et al.
The Journal of Gene Medicine, 2019
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
Park J et al.
Clinical Genetics, 2016
Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA.
Maciag M et al.
British Journal of Haematology, 2009
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