| 摘要 |
This invention is directed to a deep intronic mutation in the GBE1 gene, and use of the mutation to efficiently and correctly screen for, identify, and diagnose adult polyglucosan body disease (APBD) in those individuals who are afflicted with or who may develop APBD. The invention also provides primers and probes for this method, as well as targets for basic research for APBD, and the development of preventative and therapeutic agents for APBD. |
