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Updated: Jul 22, 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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在L1CAM中出现的一种新型拼接变异是导致胎儿反复发作的水脑病的原因

Tiantian He1,2,3, Qiang Yao2,3, Bocheng Xu1,2,3

  • 1Department of Medical Genetics & Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China.

Molecular genetics & genomic medicine
|July 25, 2023
PubMed
概括

一种新的L1CAM基因突变导致男性胎儿的 X 链接头复发. 这一遗传发现可以为患有这种严重神经疾病的家庭改善产前诊断.

关键词:
一个L1CAM.胎儿的水脑.在产前诊断 产前诊断拼接变化的变化

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相关概念视频

RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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