Associated Papers
Angioid streaks in hereditary spherocytosis associated with an SPTB gene variant.
Higa N et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 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 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
Exome sequencing for diagnosis of congenital hemolytic anemia.
Mansour-Hendili L et al.
Orphanet Journal of Rare Diseases, 2020
A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.
Xue J et al.
The Kaohsiung Journal of Medical Sciences, 2020
Clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosis.
Xue J et al.
Annals of Translational Medicine, 2019
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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