Both paroxysmal nocturnal hemoglobinuria (PNH) type II cells and PNH type III cells can arise from different point mutations involving the same codon of the PIG-A …

S Rollinson, S Richards, D Norfolk… - Blood, The Journal …, 1997 - ashpublications.org
S Rollinson, S Richards, D Norfolk, K Bibi, G Morgan, P Hillmen
Blood, The Journal of the American Society of Hematology, 1997ashpublications.org
To the Editor: with PNH3-6 and some reports of patients with more than one coexistent PNH
clone. 7, 8 The majority of PIG-A mutations are small insertions or deletions that result in a
frame-shift and early termination Paroxysmal nocturnal hemoglobinuria (PNH) is due to a
somatic of the PIG-A product. In all of these cases there is no active PIG-mutation of the PIG-
A gene occurring in a hematopoietic stem cell. A protein and thus a complete deficiency of
GPI-linked proteins. In This results in a deficiency of all proteins that are normally attached a …
To the Editor: with PNH3-6 and some reports of patients with more than one coexistent PNH clone. 7, 8 The majority of PIG-A mutations are small insertions or deletions that result in a frame-shift and early termination Paroxysmal nocturnal hemoglobinuria (PNH) is due to a somatic of the PIG-A product. In all of these cases there is no active PIG-mutation of the PIG-A gene occurring in a hematopoietic stem cell. A protein and thus a complete deficiency of GPI-linked proteins. In This results in a deficiency of all proteins that are normally attached a minority of patients with PNH, the PIG-A mutation is a point to the cell membrane via a glycosyl phosphatidylinositol (GPI) an- mutation resulting in an amino acid substitution within the PIG-A chor. 1, 2 There have been many reports of PIG-A mutations in patients protein. In these cases, a normal length PIG-A protein is produced
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