Associated Papers
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.
Qin L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies.
Vandorpe DH et al.
Haematologica, 2021
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
Andolfo I et al.
Genes, 2021
Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions.
De Vecchis D et al.
Biophysical Journal, 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
Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.
Yenchitsomanus PT et al.
Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2005
Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger.
Quilty JA et al.
Traffic (copenhagen, Denmark), 2000
Functional consequences of mutations in the transmembrane domain and the carboxy-terminus of the murine AE1 anion exchanger.
Chernova MN et al.
Biochimica Et Biophysica Acta, 1997
[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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