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Novel pathogenic mutations in the glucocerebrosidase locus

Raquel Duran1, Alisdair McNeill, Atul Mehta

  • 1Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. r.ogalla@ucl.ac.uk

Molecular Genetics and Metabolism
|June 5, 2012
PubMed
Summary

Researchers identified five new GBA1 gene mutations in Gaucher's disease patients. These GBA1 mutations are linked to Parkinson's disease, requiring further study to understand the biochemical links.

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