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GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.

Human mutation - 1 Feb 2007

Caciotti Anna, Donati Maria Alice, Procopio Elena, Filocamo Mirella, Kleijer Wim, Wuyts Wim, Blaumeiser Bettina, d'Azzo Alessandra, Simi Lisa, Orlando Claudio, McKenzie Fiona, Fiumara Agata, Zammarchi Enrico, Morrone Amelia

Abstract excerpt

The human GLB1 gene produces two alternatively spliced transcripts that encode the lysosomal enzyme beta-galactosidase (GLB1) and the elastin binding protein (EBP). Mutations at the GLB1 locus, which are responsible for the storage disorder GM1 gangliosidosis, may affect either both proteins or GLB1 only. The EBP, when affected, contributes to specific features of GM1 gangliosidosis patients, such as...

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Source

Identifiers

PMID: 17221873
DOI: 10.1002/humu.9475

Genes

GLB1
EBP

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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