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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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Detalles Bibliográficos
Autores principales: Vercellati, Cristina, Marcello, Anna Paola, Fattizzo, Bruno, Zaninoni, Anna, Seresini, Agostino, Barcellini, Wilma, Bianchi, Paola, Fermo, Elisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9413078/
https://www.ncbi.nlm.nih.gov/pubmed/36035481
http://dx.doi.org/10.3389/fphys.2022.949044