Article
Paroxysmal nocturnal haemoglobinuria.
Nature reviews. Disease primers - 18 May 2017
Hill Anita, DeZern Amy E, Kinoshita Taroh, Brodsky Robert A
Abstract excerpt
Paroxysmal nocturnal haemoglobinuria (PNH) is a clonal haematopoietic stem cell (HSC) disease that presents with haemolytic anaemia, thrombosis and smooth muscle dystonias, as well as bone marrow failure in some cases. PNH is caused by somatic mutations in PIGA (which encodes phosphatidylinositol N-acetylglucosaminyltransferase subunit A) in one or more HSC clones. The gene product of PIGA is required for the...
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