| 专利名称 | SET OF PATHOGENIC GENES FOR MENTAL RETARDATION AND ADVANCED COGNITIVE IMPAIRMENT AND DETECTION PRIMER AND KIT THEREFOR | ||
| 申请号 | WOCN19081210 | 申请日 | |
| 公开（公告）号 | WO2020015387A1 | 公开（公告）日 | |
| 申请（专利权）人 | THE FIRST AFFILIATED HOSPITAL OF DALIAN MEDICAL UNIVERSITY | 发明人 | LIU Jing; WANG Liang; XIN Chengqi; MA Jingyun |
| 专利来源 | 国家知识产权局 | 转化方式 | |
| 摘要 |
A set of pathogenic genes for mental retardation and advanced cognitive impairment and a detection primer and kit therefor. The set of pathogenic genes comprises mutant SLC16A2, KIF4A, MED15, and FAM83G genes and 5 structural variant genes, namely CT55, DTX2P1-UPK3BP1-PMS2P11, EBF2, FAM173B, and TMTC1. The detection of a mutation in said genes can assist in the diagnosis of mental retardation and advanced cognitive impairment. |
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