Article
A patient with paroxysmal nocturnal hemoglobinuria bearing four independent PIG-A mutant clones.
Blood - 1 May 1997
Nishimura J, Inoue N, Wada H, Ueda E, Pramoonjago P, Hirota T, Machii T, Kageyama T, Kanamaru A, Takeda J, Kinoshita T, Kitani T
Abstract excerpt
Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by clonal blood cells that are deficient in the surface expression of glycosylphosphatidylinositol-anchored proteins due to somatic mutation in the X-linked gene PIG-A. In some patients, more than one abnormal clone may be present. Analysis of bulk DNA/RNA from granulocytes has been useful in identifying the predominant PIG-A mutation in each patient....
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