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Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis

Red blood cell (RBC) deformability is altered in inherited RBC disorders but the mechanism behind this is poorly understood. Here, we explored the molecular, biophysical, morphological, and functional consequences of α-spectrin mutations in a patient with hereditary elliptocytosis (pEl) almost exclu...

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Detalles Bibliográficos
Autores principales: Pollet, Hélène, Cloos, Anne-Sophie, Stommen, Amaury, Vanderroost, Juliette, Conrard, Louise, Paquot, Adrien, Ghodsi, Marine, Carquin, Mélanie, Léonard, Catherine, Guthmann, Manuel, Lingurski, Maxime, Vermylen, Christiane, Killian, Theodore, Gatto, Laurent, Rider, Mark, Pyr dit Ruys, Sébastien, Vertommen, Didier, Vikkula, Miikka, Brouillard, Pascal, Van Der Smissen, Patrick, Muccioli, Giulio G., Tyteca, Donatienne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465299/
https://www.ncbi.nlm.nih.gov/pubmed/32751168
http://dx.doi.org/10.3390/biom10081120