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Article

Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.

Blood - 1 May 1994

Ware R E, Rosse W F, Howard T A

Abstract excerpt

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematologic disorder with multiple and varied clinical manifestations. The biochemical defect in PNH resides in the incomplete enzymatic assembly of glycosylphosphatidylinositol (GPI) anchors used for surface protein attachment. In all patients tested thus far, the defect is at the level of N-acetylglucosamine attachment to phosphatidylinositol...

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Identifiers

PMID: 8167330

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.PMID 8167330Read ↗

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

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

Abnormalities of PIG-A Transcripts in Granulocytes from Patients with Paroxysmal Nocturnal HemoglobinuriaSemantic proximity Read ↗

Paroxysmal nocturnal hemoglobinuria: insights from recent advances in molecular biology.Semantic proximity Read ↗

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

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

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.Semantic proximity Read ↗

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

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

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

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

Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

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