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1.发明申请COMPOSITIONS AND METHODS FOR DIAGNOSING AND TREATING INTELLECTUAL DISABILITY SYNDROME, AUTISM AND AUTISM RELATED DISORDERS 审中-公开诊断和治疗知识障碍综合症，异常和相关疾病的组合物和方法
公开(公告)号：WO2013133708A1
公开(公告)日：2013-09-12
申请号：PCT/NL2013/050147
申请日：2013-03-07
Applicant: STICHTING VU-VUMC
IPC: C12Q1/68
CPC classification number: C12Q1/6883 , C12Q1/6827 , C12Q2600/156 , C12Q2533/107 , C12Q2537/143
Abstract: The disclosure relates to methods of diagnosing and treating autism. The disclosure provides diagnostic methods based on identifying alterations in the AUTS2 gene, in particular in the AUTS2 short isoform. The disclosure further relates to therapeutic interventions utilizing the newly identified alternative transcript.
Abstract translation: 本公开涉及诊断和治疗自闭症的方法。 本公开提供了基于识别AUTS2基因，特别是在AUTS2短型同工型中的改变的诊断方法。 本公开还涉及使用新鉴定的替代转录物的治疗性干预。
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