Associated Papers
Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.
Wu C et al.
Orphanet Journal of Rare Diseases, 2024
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2
A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
Kager L et al.
Hemasphere, 2024
Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin.
Machnicka B et al.
Life (basel, Switzerland), 2023
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
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
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
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
A previously unrecognized Ankyrin-1 mutation associated with Hereditary Spherocytosis in an Italian family.
Lazzareschi I et al.
European Journal of Haematology, 2019
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.
Wang R et al.
Science China. Life Sciences, 2018
Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature.
Luo Y et al.
Acta Haematologica, 2018
Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
Agarwal AM et al.
British Journal of Haematology, 2016
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