Associated Papers
Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort.
More TA et al.
Human Genetics, 2025
Multigene Panel Testing Reveals Novel Variants in Hereditary Spherocytosis Patients in Türkiye
Doğru Ö et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 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
Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.
Liang G et al.
Molecular Genetics and Genomics : Mgg, 2024
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing.
Wang WJ et al.
Clinical Genetics, 2023
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
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
Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing.
Qin L et al.
Journal of Human Genetics, 2020
The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.
van Vuren A et al.
Hemasphere, 2019
[The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients].
Peng GX et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018
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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