HOSPITAL DISTRICT OF HELSINKI AND UUSIMAA;THE UNIVERSITY OF MANCHESTER;NATIONAL INSTITUTE ON AGING;UNIVERSITY COLLEGE CARDIFF CONSULTANTS LIMITED;VU UNIVERSITY MEDICAL CENTRE AMSTERDAM;UCL BUSINESS PL
发明人:
PICKERING-BROWN, STUART,TRAYNOR, BRYAN,SINGLETON, ANDREW,MORRIS, HUW,HEUTINK, PETER,HARDY, JOHN,TIERNARI, PENTTI
申请号:
CA2846307
公开号:
CA2846307A1
申请日:
2012.08.31
申请国别(地区):
CA
年份:
2013
代理人:
摘要:
The present invention relates to methods of assessing whether a subject has or is likely to develop a neurodegenerative disease comprising determining whether the subject has a mutation in the C9orf72 gene wherein said mutation prevents or disrupts C9orf72 expression relative to expression in a reference from subjects without the mutation.