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Article

Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease.

Clinical genetics - 1 Jun 2002

Heltianu C, Costache G, Azibi K, Poenaru L, Simionescu M

Abstract excerpt

The gene encoding endothelial nitric oxide synthase (eNOS) is involved in abnormalities in nitric oxide (NO) synthesis that mediates functional damage of vascular cells, especially of endothelial cells (ECs), a common characteristic in cardiovascular diseases. In Fabry's disease, the characteristic mutation in the alpha-galactosidase A (alpha-gal A) gene induces large deposits of glycosphingolipids, particularly...

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Identifiers

PMID: 12121349
DOI: 10.1034/j.1399-0004.2002.610605.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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