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

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Article

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

The Southeast Asian journal of tropical medicine and public health - 1 Jan 1997

Pakdeesuwan K, Siripanyaphinyo U, Pramoonjago P, Pattanapanyasat K, Wilairat P, Kinoshita T, Wanachiwanawin W

Abstract excerpt

The genetic and biochemical defects underlying paroxysmal nocturnal hemoglobinuria (PNH) have recently been elucidated. The deficiency of the surface expression of glycosylphosphatidylinositol (GPI)-anchored proteins caused by a somatic mutation of the PIG-A gene, an X-chromosomal gene that parti...

Topics

Adult
CD55 Antigens
CD59 Antigens
Erythrocytes
Female
Genotype
Granulocytes
Hemoglobinuria, Paroxysmal
Humans
Male
Membrane Proteins
Middle Aged
Mutation
Phenotype
Reticulocytes

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Open in PubMed

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PMID: 9640601

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9640601-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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