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Article

Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study.

Medicine - 1 May 2018

Oder Daniel, Liu Dan, Üçeyler Nurcan, Sommer Claudia, Hu Kai, Salinger Tim, Müntze Jonas, Petritsch Bernhard, Ertl Georg, Wanner Christoph, Nordbeck Peter, Weidemann Frank

Abstract excerpt

Single nucleotide polymorphisms (SNPs) in the alpha-galactosidase A gene region (GLA) have been discussed as potential cause of symptoms and organ manifestations similarly to those seen in Fabry disease (FD). However, due to scarce data, clinical implications remain limited. The aim of the present study was to investigate the clinical impact of -10C>T SNP in the GLA.Prospective single-center observational study...

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Identifiers

PMID: 29794742
DOI: 10.1097/MD.0000000000010669
PMCID: PMC6392711

Genes

GLA
GAL

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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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