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[Mutations in the PIG-A gene lead to GPI-deficiency in paroxysmal nocturnal hemoglobinuria].

Immunitat und Infektion - 1 Aug 1994

Ostendorf T, Schubert J, Schmidt R E

Abstract excerpt

Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by the deficiency of glycosylphosphatidylinositol-(GPI-)-anchored surface molecules on blood cells. The biochemical basis of this deficiency is the lack of the first GPI biosynthesis intermediate GlcNAc-PI in the deficient cells corresponding to that in Thy-1- mouse lymphoma mutants of the class A. Recently, the responsible gene (PIG-A gene) has been...

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Identifiers

PMID: 7927481

Genes

GPI

Provenance

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→

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[Mutations in the PIG-A gene lead to GPI-deficiency in paroxysmal nocturnal hemoglobinuria].PMID 7927481Read ↗

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 ↗

Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and 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 ↗

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

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

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

T cells from paroxysmal nocturnal haemoglobinuria (PNH) patients show an altered CD40-dependent pathway.Semantic proximity Read ↗

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

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

Genotypic and phenotypic implications in paroxysmal nocturnal hemoglobinuria (PNH): a preliminary investigation.Semantic proximity Read ↗

Paroxysmal nocturnal hemoglobinuria: An acquired genetic disease.Semantic proximity Read ↗

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