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Article

A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency.

Journal of nephrology - 1 Jan 2000

Pisani Antonio, Visciano Bianca, Russo Roberta, Mozzillo Giusi R, Porto Caterina, De Maggio Ilaria, Russo Roberta, Pontarelli Gianfranco, Villani Guglielmo R D, Cianciaruso Bruno, Di Natale Paola

Abstract excerpt

Fabry disease is an X-linked lysosomal disease caused by mutations of the alpha-galactosidase A (GLA) gene at chromosome subband Xq22.1. To date, more than 600 genetic mutations have been identified to determine the nature and frequency of the molecular lesions causing the classical and milder variant phenotypes and for precise carrier detection. We report here a Fabry family (mother, son and daughter) where the...

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Identifiers

PMID: 22307442
DOI: 10.5301/jn.5000073

Genes

GLA

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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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