A novel gain-of-function mutation of Piezo1 is functionally affirmed in red blood cells by high-throughput patch clamp

Haematologica. 2019 May;104(5):e179-e183. doi: 10.3324/haematol.2018.201160. Epub 2018 Sep 20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Anemia, Hemolytic, Congenital / genetics*
  • Anemia, Hemolytic, Congenital / pathology*
  • Erythrocytes / metabolism
  • Erythrocytes / pathology*
  • Gain of Function Mutation*
  • High-Throughput Screening Assays / methods*
  • Humans
  • Ion Channels / genetics*
  • Male
  • Patch-Clamp Techniques / methods*
  • Prognosis

Substances

  • Ion Channels
  • PIEZO1 protein, human