Article

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis

2022-09-29

Abstract excerpt

<title>Abstract</title> <p>Hereditary stomatocytosis (HSt) is a type of congenital hemolytic anemia caused by abnormally increased cation permeability of erythrocyte membranes. Dehydrated HSt (DHSt) is the most common subtype of HSt and is diagnosed based on clinical and laboratory findings related to the erythrocytes. <italic>PIEZO1</italic> and <italic>KCNN4</italic> have been recognized as causative genes, and...

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Literature Corpus work: 8573cde5-012c-52ba-8aa8-4d163b830bce
DOI: 10.21203/rs.3.rs-2055158/v1

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