The U.S.A. as represented by the Secretary, Department of Health and Human Services;Murdoch University;The General Hospital Corporation;President and Fellows of Harvard College;UCL Business PLC
发明人:
WILTON, Steve,MACARTHUR, Daniel,LEK, Monkol,CUMMINGS, Beryl,BONNEMANN, Carsten, G.,BOLDUC, Veronique,MUNTONI, Francesco
申请号：
EP17824810
公开号：
EP3481432A4
申请日:
2017.07.05
申请国别(地区):
EP
年份:
2020
代理人:
摘要：
A single nucleotide polymorphism (SNP) that results in development of a Type VI collagen, alpha 1 chain-related disorder, and the use of the SNP to identify individuals at risk for developing COL6-related disorders (COL6-RD). Also provided are antisense oligomers for treating individuals at risk for developing COL6-RD, as well as methods for screening compounds for their potential as therapeutic agents.
