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
Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants.
Cheng J et al.
Frontiers in Pediatrics, 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
Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.
Wu C et al.
Orphanet Journal of Rare Diseases, 2024
Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.
Liang G et al.
Molecular Genetics and Genomics : Mgg, 2024
Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China.
Wu C et al.
Frontiers in Pediatrics, 2024
Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?
Häuser F et al.
International Journal of Molecular Sciences, 2023
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
Clinical Findings on Chromosome 1 Copy Number Variations.
Leitão F et al.
Neuropediatrics, 2022
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
Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children.
Wu C et al.
Frontiers in Genetics, 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
Genetic and Clinical Characteristics of Patients With Hereditary Spherocytosis in Hubei Province of China.
Wang X et al.
Frontiers in Genetics, 2020
Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes.
Shen H et al.
Bmc Medical Genetics, 2019
Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
Agarwal AM et al.
British Journal of Haematology, 2016