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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 (phosphatidylinositoglycan-class A) gene are responsible for GPI-anchor deficiency in all PNH patients. In the current study, we...

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Identifiers

PMID: 8557259
DOI: 10.1007/BF00218831

Genes

GPI

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients.PMID 8557259Read ↗

Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

Detection of somatic mutations of the PIG-A gene in Brazilian patients with paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

PIG-A gene mutations in four Taiwanese patients with paroxysmal nocturnal haemoglobinuria following aplastic anaemia.Semantic proximity Read ↗

Recurrent PIG-A mutation (IVS5+1G-->A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test.Semantic proximity Read ↗

Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria.Semantic proximity Read ↗

Heterogeneous PIG-A mutations in different cell lineages in paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis.Semantic proximity Read ↗

PIG-A gene abnormalities in Thai patients with paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

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

Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.Semantic proximity Read ↗

Somatic mutations of the PIG-A gene found in Japanese patients with paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

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