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
Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.
Liang G et al.
Molecular Genetics and Genomics : Mgg, 2024
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
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
[Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene].
Liu H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.
Wang R et al.
Science China. Life Sciences, 2018
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