Sequences associated with TDP-43 proteinopathies and methods of using the same

摘要

The present invention provides nucleic acids and peptides, and methods of using the nucleic acids and peptides to identify subjects at risk for a TDP-43 proteinopathy. The invention also provides for an army comprising the nucleic acids and peptides of the invention.

主权项

1. A method for detecting a mutation in a TDP-43 gene from a human subject, comprising
(i) obtaining a sample comprising a TDP-43 gene from the human subject; and (ii) sequencing the TDP-43 gene; and (iii) detecting an adenine at a position corresponding to position 1077 of SEQ ID NO:1.