Dataset Information
Novel pathogenic mutations in the glucocerebrosidase locus.
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ABSTRACT:
SUBMITTER: Duran R
PROVIDER: S-EPMC3426931 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
Publications
Novel pathogenic mutations in the glucocerebrosidase locus.
Molecular genetics and metabolism 20120518 4
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 charact ...[more]