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Article

Identification and characterization of an inherited mutation of PIG-A in a patient with paroxysmal nocturnal haemoglobinuria.

British journal of haematology - 1 Jun 1996

Endo M, Ware R E, Vreeke T M, Howard T A, Parker C J

Abstract excerpt

Analysis of the X-linked gene PIG-A from haemopoietic cells of a female PNH patient showed a homozygous C-55-T substitution that caused replacement of arginine with tryptophan at codon 19. Aval restriction analysis of PIG-A cDNA demonstrated that the patient was homozygous for this mutation, whereas her mother was heterozygous and her father was hemizygous. Flow cytometry, however, showed normal expression of...

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Identifiers

PMID: 8652378
DOI: 10.1046/j.1365-2141.1996.d01-1701.x

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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 and characterization of an inherited mutation of PIG-A in a patient with paroxysmal nocturnal haemoglobinuria.PMID 8652378Read ↗

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

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

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

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

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

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

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