Article
Somatic mutation and clonal selection in the pathogenesis and in the control of paroxysmal nocturnal hemoglobinuria.
Seminars in hematology - 1 Apr 1998
Bessler M, Hillmen P
Abstract excerpt
Patients with paroxysmal nocturnal hemoglobinuria (PNH) have a somatic mutation of the X-linked PIG-A gene which occurs in a hematopoietic stem cell. This results in a proportion of blood cells being deficient in all glycosyl phosphatidylinositol (GPI) anchored proteins. These GPI-deficient cells...
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