Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type

Abstract excerpt

Paroxysmal nocturnal hemoglobinuria is an acquired hemolytic anemia associated with somatic mutations in the X-linked gene PIG-A, which encodes a protein involved in the biosynthesis of glycosyl phosphatidylinositol anchors. To further elucidate the molecular basis of paroxysmal nocturnal hemoglobinuria, we have worked out a systematic and relatively rapid methodology to scan for mutations in the entire coding...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Complement system in diseases
• Share to Monoclonal and Polyclonal Antibodies Research
• Share to Pancreatic function and diabetes