Does a rare mutation in PTPRA contribute to the development of Parkinson's disease in an Australian multi-incident family?

Abstract excerpt

The genetic study of multi-incident families is a powerful tool to investigate genetic contributions to the development of Parkinson's disease. In this study, we identified the rare PTPRA p.R223W variant as one of three putative genetic factors potentially contributing to disease in an Australian family with incomplete penetrance. Whole exome sequencing identified these mutations in three affected cousins. The...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Australia
• Share to Exome Sequencing