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Article

The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified.

Clinical genetics - 1 Nov 2024

Zampieri Stefania, Cattarossi Silvia, Ferri Lorenzo, Graziano Claudio, Santostefano Marisa, Morrone Amelia, Dardis Andrea

Abstract excerpt

Here, we report the identification and functional characterization of a novel GLA variant, not detectable by routine molecular tests, in a family with FD suspicion.

Read the complete abstract on PubMed

Topics

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Share to alpha-Galactosidase
Share to Fabry Disease
Share to GLA gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

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Share to Promoter Regions, Genetic

Source

Identifiers

PMID: 39023102
DOI: 10.1111/cge.14591

Genes

GLA

Provenance

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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