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
38434532 (PubMed )
Supplement: HEM3-8-e31-s001.docx
Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis.
Yamamoto KS et al.
Human Genome Variation, 2022
Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis.
Vercellati C et al.
Frontiers in Physiology, 2022
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 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
Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.
Svidnicki MCCM et al.
Annals of Hematology, 2020
Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes.
Shen H et al.
Bmc Medical Genetics, 2019
Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1.
Van Zwieten R et al.
American Journal of Hematology, 2013
A Swiss (εγδβ)⁰-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment.
Von Kanel T et al.
American Journal of Hematology, 2013
Molecular and haematological studies of four families with hereditary spherocytosis resulting from band 3 deficiency.
Maciag M et al.
Acta Haematologica, 2006
[A case of hereditary over-hydrated stomatocytosis with stomatospherocytes and spherocytes in the blood].
Kościelak J et al.
Medycyna Wieku Rozwojowego, 0
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