Variant spectrum of piezo1 and kcnn4 in japanese patients with dehydrated hereditary stomatocytosis

HIGHLIGHTS

• who: Erina Nakahara from the Laboratory findings have published the article: Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis, in the Journal: (JOURNAL) of 12/09/2022
• what: The authors report the genomic variants identified in Japanese patients with HSt, especially those related to DHSt. All patients with PIEZO1 variations in this study showed elevated levels of ferritin, except a young 8-year-old patient. Among them, p.R352H identified in patient 12 in the study has been recurrently identified20.
• how: The data are consistent with their results . . .
  

   

  

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