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Article

Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy.

Journal of assisted reproduction and genetics - 1 Aug 2021

Ren Yixin, Lian Ying, Yan Zhiqiang, Zhai Fan, Yang Ming, Zhu Xiaohui, Wang Yuqian, Nie Yanli, Guan Shuo, Kuo Ying, Huang Jin, Shi Xiaodan, Jia Jialin, Qiao Jie, Yan Liying

Abstract excerpt

PURPOSE: To determine whether next-generation sequencing (NGS) could be used to directly detect different mutations of Duchenne muscular dystrophy (DMD) during preimplantation genetic testing (PGT). METHODS: From Sep. 2016 to Aug. 2018, a total of six couples participated in this study. Four cases carried DMD exon deletions and two carried exon duplications. Trophectoderm cells were biopsied at day 5 or 6 and NGS...

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Identifiers

PMID: 33719023
DOI: 10.1007/s10815-021-02126-z
PMCID: PMC8417207

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