Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis

• 主要な著者: Haining Luo (著者), Chao Chen (著者), Yun Yang (著者), Yinfeng Zhang (著者), Yuan Yuan (著者), Wanyang Wang (著者), Renhua Wu (著者), Zhiyu Peng (著者), Ying Han (著者), Lu Jiang (著者), Ruqiang Yao (著者), Xiaoying An (著者), Weiwei Zhang (著者), Yanqun Le (著者), Jiale Xiang (著者), Na Yi (著者), Hui Huang (著者), Wei Li (著者), Yunshan Zhang (著者), Jun Sun (著者)
• フォーマット: 図書
• 出版事項: BMC, 2019-11-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Preimplantation genetic testing for monogenic defects (PGT-M) has been available in clinical practice. This study aimed to validate the applicability of targeted capture sequencing in developing personalized PGT-M assay. Methods One couple at risk of transmitting Usher Syndrome t...