Mutations in the PIG-A gene causing partial deficiency of GPI-linked surface proteins (PNH II) in patients with paroxysmal nocturnal haemoglobinuria.

doi:10.1111/j.1365-2141.1994.tb06754.x

Back to search

Article

Mutations in the PIG-A gene causing partial deficiency of GPI-linked surface proteins (PNH II) in patients with paroxysmal nocturnal haemoglobinuria.

British journal of haematology - 1 Aug 1994

Bessler M, Mason P J, Hillmen P, Luzzatto L

Abstract excerpt

Paroxysmal nocturnal haemoglobinuria (PNH) is due to the absence or marked reduction of glycan phosphatidylinositol (GPI)-anchored proteins on the surface of blood cells. Affected patients may have a population of red blood cells that are completely deficient (PNH III) or partially deficient (PNH...

Topics

Adult
Base Sequence
Child
Female
Glycosylphosphatidylinositols
Hemoglobinuria, Paroxysmal
Humans
Male
Membrane Proteins
Molecular Sequence Data
Mutation

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.