Article
Identification of acquired PIGA mutations and additional variants by next-generation sequencing in paroxysmal nocturnal hemoglobinuria.
International journal of laboratory hematology - 1 Aug 2020
Li Jing, Lin Yani, Chen Long, Qin Li, Tan Hao, Zou Junyan, Zhang Donglei, Nie Yanbo, Wang Guangjuan, Zhang Hong, Liu Enbin, Chen Xuejing, Ru Kun
Abstract excerpt
INTRODUCTION: Paroxysmal Nocturnal Hemoglobinuria (PNH) is an acquired clonal disease of hematopoietic stem cells. It is caused by somatic mutation of the X-linked PIGA gene, resulting in a deficient expression of glycosylphosphatidylinositol-anchored proteins (GPI-APs). In this study, we aimed to explore the diagnostic value of next-generation sequencing (NGS) and potential molecular basis in PNH patients....
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