Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis

Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis

We investigated by targeted next generation sequencing the genetic bases of hereditary spherocytosis in 25 patients and compared the molecular results with the biochemical lesion of RBC membrane obtained by SDS-PAGE analysis. The HS diagnosis was based on available guidelines for diagnosis of congen...

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Bibliographic Details
Main Authors: Cristina Vercellati, Anna Paola Marcello, Bruno Fattizzo, Anna Zaninoni, Agostino Seresini, Wilma Barcellini, Paola Bianchi, Elisa Fermo
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Physiology
Subjects:
hereditary spherocytosis
hemolytic anemias
cytoskeleton
RBC membrane defects
NGS
Online Access:https://www.frontiersin.org/articles/10.3389/fphys.2022.949044/full

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