A novel gain-of-function mutation of Piezo1 is functionally affirmed in red blood cells by high-throughput patch clamp
2019
Piezo1 is a mechanosensitive ion channel that is believed to be expressed in red blood cells (RBCs), mainly supported by the findings that mutations of the PIEZO1 gene are associated with the RBC disease hereditary xerocytosis.[1][1],[2][2] So far, several mutations (e.g. R2456H, T2127M and E2496ELE
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