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
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
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
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