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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 participates in the first step of the GPI anchor synthesis, has been shown to be responsible for PNH in all patients. The...

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PMID: 9640601

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GPI

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