Article
Molecular genetics of paroxysmal nocturnal hemoglobinuria.
International journal of hematology - 1 Feb 2003
Inoue Norimitsu, Murakami Yoshiko, Kinoshita Taroh
Abstract excerpt
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell disorder characterized by the clonal expansion of glycosylphosphatidylinositol (GPI)-deficient cells that leads to complement-mediated hemolysis. A somatic mutation in the PIG-A gene involved in GPI biosynthesis causes a deficiency of GPI-anchored proteins. However, it is evident that the clonal expansion of GPI-deficient cells is...
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