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Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations

Gain-of-function mutations in PIEZO1 cause dehydrated hereditary stomatocytosis (DHS) or hereditary xerocytosis, an autosomal dominant hemolytic anemia characterized by high reticulocyte count, a tendency to macrocytosis, and mild jaundice, as well as by other variably penetrant clinical features, s...

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Detalles Bibliográficos
Autores principales: Andolfo, Immacolata, Monaco, Vittoria, Cozzolino, Flora, Rosato, Barbara Eleni, Marra, Roberta, Cerbone, Vincenza, Pinto, Valeria Maria, Forni, Gian Luca, Unal, Sule, Iolascon, Achille, Monti, Maria, Russo, Roberta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society of Hematology 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10333744/
https://www.ncbi.nlm.nih.gov/pubmed/36595486
http://dx.doi.org/10.1182/bloodadvances.2022008673