Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations.
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DOI: 10.1182/bloodadvances.2022008673
Abstract: Gain-of-function (GoF) 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… read more here.
Keywords: gain function; dhs patients; gain; proteome alterations ... See more keywords