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Article

Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.

International journal of molecular sciences - 3 Dec 2022

Alfen Franziska, Putscher Elena, Hecker Michael, Zettl Uwe Klaus, Hermann Andreas, Lukas Jan

Abstract excerpt

Fabry disease (FD) is a rare X-linked disease due to a multiverse of disrupting mutations within the GLA gene encoding lysosomal α-galactosidase A (AGAL). Absent AGAL activity causes the accumulation of complex glycosphingolipids inside of lysosomes in a variety of cell types and results in a progressive multisystem disease. Known disease-associated point mutations in protein-coding gene regions usually cause...

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Identifiers

PMID: 36499585
DOI: 10.3390/ijms232315261
PMCID: PMC9737616

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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