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Article

Remarkable variability in renal disease in a large Slovenian family with Fabry disease.

European journal of human genetics : EJHG - 1 Aug 2004

Verovnik Franc, Benko Davorin, Vujkovac Bojan, Linthorst Gabor E

Abstract excerpt

Following the diagnosis of Fabry disease in a 45-year-old male, in 31 family members alpha-galactosidase A (alpha-Gal) activity in leucocytes was measured and mutation analysis of the alpha-Gal gene was performed. In the proband, the unique mutation A10523G/N272S in exon 6 was found, which was subsequently detected in seven males (of which one twin) and 10 female subjects. All males showed decreased to absent...

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Source

Identifiers

PMID: 15162124
DOI: 10.1038/sj.ejhg.5201184

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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