Article
Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria.
Journal of clinical pathology - 1 Jun 2002
Yoon J H, Cho H I, Park S S, Chang Y H, Kim B K
Abstract excerpt
AIM: Paroxysmal nocturnal haemoglobinuria (PNH) is caused by deficient biosynthesis of the glycosylphosphatidylinositol (GPI) anchor in haemopoietic stem cells. Mutation of the phosphatidylinositol glycan class A (PIG-A) gene, an X linked gene that participates in the first step of GPI anchor biosynthesis, is responsible for PNH. The characteristics of somatic mutation of the PIG-A gene in Korean patients with...
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