Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria.

doi:10.1016/s0140-6736(94)90068-x

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Article

Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria.

Lancet (London, England) - 16 Apr 1994

Bessler M, Mason P, Hillmen P, Luzzatto L

Abstract excerpt

Patients with paroxysmal nocturnal haemoglobinuria (PNH) have in their blood two red-cell populations, one normal and one deficient in proteins anchored to the membrane through a glycan phosphatidylinositol (GPI) structure. The PNH abnormality is due to a somatic mutation in the PIG-A gene, whose...

Topics

Cell Line
Clone Cells
Glycosylphosphatidylinositols
Hemoglobinuria, Paroxysmal
Humans
Mutation
Polymerase Chain Reaction
Stem Cells

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