Associated Papers
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
Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.
More TA et al.
Molecular Genetics and Genomics : Mgg, 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
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
Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing.
Qin L et al.
Journal of Human Genetics, 2020
Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan.
Lin PC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature.
Luo Y et al.
Acta Haematologica, 2018
Select a paper to view details