Associated Papers
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
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
Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.
Aggarwal A et al.
British Journal of Haematology, 2020
[Clinical characteristics and genetic analysis of hereditary spherocytosis caused by mutations of ANK1 and SPTB genes].
Gong J et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
Molecular basis of erythrocyte membrane disorders.
Gallagher PG et al.
Current Opinion in Hematology, 1997
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
Eber SW et al.
Nature Genetics, 1996
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