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Article

The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

Genetic testing - 1 Jan 2005

Georgiou Theodoros, Stylianidou Goula, Anastasiadou Violetta, Caciotti Anna, Campos Yvan, Zammarchi Enrico, Morrone Amelia, D'azzo Alessandra, Drousiotou Anthi

Abstract excerpt

GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration, and in its most severe infantile form, it leads to death before the age of 4. The GLB1 gene gives rise to two alternatively spliced mRNAs that encode the beta-galactosidase and the elastin binding protein (EBP). The diagnosis of two patients with the infantile...

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Source

Identifiers

PMID: 15943552
DOI: 10.1089/gte.2005.9.126

Genes

EBP
GLB1

Variants

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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The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.PMID 15943552Read ↗

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