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Updated: May 20, 2025

Generation of Genomic Deletions in Mammalian Cell Lines via CRISPR/Cas9
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删除RAI1非编码元1-2导致史密斯-马根尼斯综合征

Uri Hamiel1, Alina Kurolap, Chofit Chai Gadot

  • 1Genetics Institute and Genomics Center, Sourasky Medical Center, 6 Weizmann Street, 6423906 Tel Aviv, Israel. urihamiel@gmail.com.

Journal of genetics
|May 19, 2025
PubMed
概括

在RAI1基因中删除非编码元1-2会导致史密斯-马格尼斯综合征 (SMS),从而导致RAI1的顺序缺陷. 这一发现扩大了已知的SMS遗传原因.

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