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Updated: Jun 11, 2025

A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse
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A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse

Published on: December 16, 2022

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鉴定和功能特征 CHD1L 基因变异涉及到人类的米勒里亚管异常

Shuya Chen1, Yali Fan1, Yujun Sun1

  • 1Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, 17 QiHeLou Street, Dongcheng District, Beijing, 100006, China.

Biological research
|September 28, 2024
PubMed
概括

在CHD1L的遗传变异与Mullerian通道异常 (MDAs) 有关. 这项研究确定了三种致病性CHD1L变异,揭示了受损的DNA损伤修复作为MDA发展的关键机制.

关键词:
CHD1L 的时间.功能性评估是一种功能性评估.遗传病因 遗传病因学穆勒的管道异常情况.整个外基因组的测序.

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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 Malformations08:22

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