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Article

Rapid and accurate G M1-gangliosidosis diagnosis using a parentage testing microsatellite.

Molecular and cellular probes - 1 Aug 2008

Kreutzer Robert, Kreutzer Mihaela, Leeb Tosso, Baumgärtner Wolfgang

Abstract excerpt

The G M1-gangliosidosis is an autosomal recessive lysosomal storage disease caused by structural defects of the beta-galactosidase gene (GLB1) which lead to a severe phenotypical impairment in homozygous individuals, whereas heterozygous carriers remain clinically normal. Currently employed DNA parentage tests include the analysis of microsatellites, which also have a diagnostic predictive value. The aim of this...

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Source

Identifiers

PMID: 18562164
DOI: 10.1016/j.mcp.2008.05.001

Genes

GLB1

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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