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Evidence for contribution of compound heterozygous variants in Wiskott-Aldrich syndrome like (WASL) gene for early onset Parkinson's disease

2020-08-26 neurology Title + abstract only
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BackgroundKnowledge of genetic determinants in Parkinsons disease is still limited. Familial forms of the disease continue to provide a rich resource to capture the genetic spectrum in disease pathogenesis, and this approach has been exploited in this study. MethodsInformative members from a three-generation family of Indian ethnicity manifesting a likely autosomal recessive mode of inheritance of PD were used for whole exome sequencing. Variant data analysis and in vitro functional characteris...

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