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Article

GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions.

The Journal of molecular diagnostics : JMD - 1 Sept 2017

Zampieri Stefania, Cattarossi Silvia, Bembi Bruno, Dardis Andrea

Abstract excerpt

Mutations in the gene encoding the lysosomal enzyme acid β-glucosidase (GBA) are responsible for Gaucher disease and represent the main genetic risk factor for developing Parkinson disease. In past years, next-generation sequencing (NGS) technology has been applied for the molecular analysis of the GBA gene, both as a single gene or as part of gene panels. However, the presence of complex gene-pseudogene...

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Identifiers

PMID: 28727984
DOI: 10.1016/j.jmoldx.2017.05.005

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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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