Associated Papers
A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family.
Xu L et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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
Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.
Xie F et al.
Molecular Genetics & Genomic Medicine, 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
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Kager L et al.
British Journal of Haematology, 2018
Select a paper to view details