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Article

Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria.

Lancet (London, England) - 16 Apr 1994

Bessler M, Mason P, Hillmen P, Luzzatto L

Abstract excerpt

Patients with paroxysmal nocturnal haemoglobinuria (PNH) have in their blood two red-cell populations, one normal and one deficient in proteins anchored to the membrane through a glycan phosphatidylinositol (GPI) structure. The PNH abnormality is due to a somatic mutation in the PIG-A gene, whose product is required for an early step in GPI anchor biosynthesis. We show that in two patients, two PNH clones with...

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Source

Identifiers

PMID: 7909012
DOI: 10.1016/s0140-6736(94)90068-x

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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