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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...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The American Society of Hematology
2023
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| 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 |