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Mol Genet Metab. 2012 Aug;106(4):495-7. doi: 10.1016/j.ymgme.2012.05.006. Epub 2012 May 18.

Novel pathogenic mutations in the glucocerebrosidase locus.

Author information

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

Abstract

To determine the frequency of mutations responsible for Gaucher's disease, we systematically sequenced the GBA1 gene as part of a molecular characterization of 73 adult patients in the United Kingdom. Five hitherto unknown pathogenic variants were identified, one of which is a splice site change; the others are novel missense mutations. Given that GBA1 gene mutations are an important risk factor for the development of Parkinson's disease, we contend that a complete analysis and molecular characterization of both the known and novel GBA1 variants will be needed before the biochemical processes underlying this genetic association can be fully understood.

PMID:
22658918
PMCID:
PMC3426931
DOI:
10.1016/j.ymgme.2012.05.006
[Indexed for MEDLINE]
Free PMC Article
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