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Article

New somatic mutation in the PIG-A gene emerges at relapse of paroxysmal nocturnal hemoglobinuria.

Blood - 1 Nov 1998

Nafa K, Bessler M, Deeg H J, Luzzatto L

Abstract excerpt

We report a detailed longitudinal study of the first patient to be treated (in 1973) for paroxysmal nocturnal hemoglobinuria (PNH) with syngeneic bone marrow transplantation (BMT). The patient subsequently relapsed with PNH in 1983, and still has PNH to date. Analysis of the PIG-A gene in a recent blood sample showed in exon 6 an insertion-duplication causing a frameshift. Polymerase chain reaction (PCR)...

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PMID: 9787183

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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Research trail→

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New somatic mutation in the PIG-A gene emerges at relapse of paroxysmal nocturnal hemoglobinuria.PMID 9787183Read ↗

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The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications.Semantic proximity Read ↗

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A patient with paroxysmal nocturnal hemoglobinuria bearing four independent PIG-A mutant clones.Semantic proximity Read ↗

Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

Long-term support of hematopoiesis by a single stem cell clone in patients with paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

Genetic instability and the etiology of somatic PIG-A mutations in paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

Paroxysmal nocturnal hemoglobinuria: stem cells and clonality.Semantic proximity Read ↗

Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift typeSemantic proximity Read ↗

The mutation rate in PIG-A is normal in patients with paroxysmal nocturnal hemoglobinuria (PNH).Semantic proximity Read ↗

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