Advances in understanding the pathogenesis of the red cell volume disorders
Author:
Affiliation:
1. APHM Department of Medical Genetics; Hôpital de la Timone; Aix Marseille Univ, INSERM, GMGF, Marseille France
2. Univ. Nice Sophia Antipolis; CNRS; Inserm, iBV, 06100 Nice France
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.14197/fullpdf
Reference103 articles.
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3. Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia;Andolfo;American Journal of Hematology,2013a
4. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1;Andolfo;Blood,2013b
5. Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis);Andolfo;American Journal of Hematology,2015
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3. The Gárdos Channel and Piezo1 Revisited: Comparison between Reticulocytes and Mature Red Blood Cells;International Journal of Molecular Sciences;2024-01-24
4. Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1;Blood Cells, Molecules, and Diseases;2023-11
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