Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.

Article

Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.

Blood - 1 May 1994

Ware R E, Rosse W F, Howard T A

Abstract excerpt

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematologic disorder with multiple and varied clinical manifestations. The biochemical defect in PNH resides in the incomplete enzymatic assembly of glycosylphosphatidylinositol (GPI) anchors used for surface protein attachment. In a...

Topics

Adult
Base Sequence
Blotting, Northern
DNA, Complementary
Frameshift Mutation
Glycosylphosphatidylinositols
Hemoglobinuria, Paroxysmal
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Sequence Analysis, DNA

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