Article
A novel homozygous mutation in the PADI6 gene causes early embryo arrest.
Reproductive health - 10 Sept 2022
Wang Xiaoxia, Zhu Huimin, He Yi, Zeng Jun, Zhao Jing, Xia Qiuping, Wu Lingqian, Yao Zhongyuan, Li Yanping
Abstract excerpt
BACKGROUND: It has been proved that mutations in the PADI6 gene can cause early embryo arrest. This study describes a newly discovered mutation in PADI6 that expands the genetic spectrum of early embryo arrest. METHODS: Peripheral blood of a patient diagnosed with early embryo arrest was collected for whole-exome sequencing. Sanger sequencing was performed to confirm this mutation. The effects of the variant were...
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