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- W2021601095 abstract "PIG-A is an X-linked gene that is essential for the first step in the biosynthesis of glycosylphosphatidyl-inositol (GPI) anchors. A rare clonal hematopoietic stem cell disease, paroxysmal nocturnal hemoglobinuria (PNH), is caused by mutations in the PIG-A gene. PNH is an acquired disease that may arise de novo or emanate from aplastic anemia. PNH blood cells have an absence or marked deficiency of all GPI anchored proteins. Interestingly, rare GPI anchor deficient blood and marrow cells that harbor PIG-A mutations can also be found in most healthy controls. This review examines the clinical and biological relevance of PIG-A mutations in PNH, aplastic anemia and healthy controls." @default.
- W2021601095 created "2016-06-24" @default.
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- W2021601095 date "2006-01-01" @default.
- W2021601095 modified "2023-10-17" @default.
- W2021601095 title "PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis" @default.
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- W2021601095 doi "https://doi.org/10.1080/10428190600555520" @default.
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