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Article

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

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Jun 2001

Franco De Carvalho R, Arruda V R, Saad S T, Costa F F

Abstract excerpt

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal syndrome characterized by intravascular hemolysis mediated by complement, thrombotic events and alterations in hematopoiesis. Basically, the molecular events which underlie the complexity of the syndrome consist of the absence of the glycosylphosphatidylinositol (GPI) anchor as a consequence of somatic mutations in the PIG-A gene, located on the X...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11378665
DOI: 10.1590/s0100-879x2001000600010

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.

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Detection of somatic mutations of the PIG-A gene in Brazilian patients with paroxysmal nocturnal hemoglobinuria.PMID 11378665Read ↗

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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 ↗

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

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

New insights into 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 ↗

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

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

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.Semantic proximity Read ↗

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

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