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Article

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.

BMC genetics - 3 Sept 2015

Gervas-Arruga Javier, Cebolla Jorge J, Irun Pilar, Perez-Lopez Javier, Plaza Luis, Roche Jose C, Capablo Jose L, Rodriguez-Rey Jose C, Pocovi Miguel, Giraldo Pilar

Abstract excerpt

BACKGROUND: Accumulation of galactosphingolipids is a general characteristic of Fabry disease, a lysosomal storage disorder caused by the deficient activity of α-galactosidase A encoded by the GLA gene. Although many polymorphic GLA haplotypes have been described, it is still unclear whether some of these variants are causative of disease symptoms. We report the study of an inheritance of a complex intronic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26334996
DOI: 10.1186/s12863-015-0267-z
PMCID: PMC4558912

Genes

GLA

Provenance

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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