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. Analys...
Topics
- Alternative Splicing
- B-Lymphocytes
- Base Sequence
- Cell Line
- Cells, Cultured
- Cloning, Molecular
- DNA Primers
- Frameshift Mutation
- Glycosylphosphatidylinositols
- Granulocytes
- Hematopoietic Stem Cells
- Hemoglobinuria, Paroxysmal
- Humans
- Male
- Membrane Proteins