1. Novel pathogenic mutations in the glucocerebrosidase locus
- Author
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Duran, Raquel, McNeill, Alisdair, Mehta, Atul, Hughes, Derralyn, Cox, Timothy, Deegan, Patrick, Schapira, Anthony H.V., and Hardy, John
- Subjects
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GENETIC mutation , *GLUCOSYLCERAMIDES , *LOCUS (Genetics) , *GAUCHER'S disease , *MOLECULAR biology , *PARKINSON'S disease - Abstract
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. [Copyright &y& Elsevier]
- Published
- 2012
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