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Updated: May 11, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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在患有唐氏综合征的新生儿体内GATA1s突变的全基因组关联研究

Yunqi Li1, Natalina Elliott2, Patricia Lein3

  • 1University of Southern California, Los Angeles, California, United States.

Blood advances
|April 18, 2025
PubMed
概括

这项研究研究了影响唐氏综合征 (DS) 儿童GATA1s突变的生殖系遗传因素. 虽然没有发现强烈的遗传联系,但增加的南亚血统与这些白血病前突变的风险更高相关.

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