Article
Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients.
Human genetics - 1 Jan 1996
Savoia A, Ianzano L, Lunardi C, De Sandre G, Carotenuto M, Musto P, Zelante L
Abstract excerpt
Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired haemolytic disorder caused by the absence of glycosyl phosphatidylinositol (GPI)-anchored surface proteins resulting from a defect in one step of GPI-anchor biosynthesis. Recent analysis has shown that mutations at the PIG-A (phosphatidyli...
Topics
- Base Sequence
- Codon
- DNA
- DNA Primers
- Erythrocytes
- Exons
- Glycosylphosphatidylinositols
- Hemoglobinuria, Paroxysmal
- Humans
- Italy
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- Sequence Deletion