Associated Papers
Genotype clinical phenotype analysis of 35 cases of hereditary spherocytosis in children.
Duowen H et al.
Frontiers in Pediatrics, 2025
Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of the ANK1 gene and phenotypic analysis.
Kang M et al.
Frontiers in Genetics, 2023
36816036 (PubMed )
Supplement: Table1.DOCX
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
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
Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature.
Luo Y et al.
Acta Haematologica, 2018
Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts.
Satchwell TJ et al.
Haematologica, 2016
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
Park J et al.
Clinical Genetics, 2016
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