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Updated: Jan 14, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

Published on: December 1, 2017

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通过小基因检测识别的NBAS中的新型拼接变体导致婴儿肝衰竭综合征2型

Anna Hu1, Jun Liang1, Hongbo Liu1

  • 1Department of Pediatrics, Liaocheng People's Hospital, Liaocheng, China.

Frontiers in genetics
|October 24, 2025
PubMed
概括

一种新的NBAS基因变异导致婴儿肝衰竭综合征2型 (ILFS2),是一种罕见的遗传疾病. 这一发现有助于诊断ILFS2,并为遗传咨询和计划生育提供关键信息.

关键词:
在ILFS2中,ILFS2是ILFS2.根据NBAS的规定,这些都是NBAS.急性肝衰竭是一种严重的肝衰竭.迷你基因检测试验 (minigene assay) 是一个非常简单的方法.拼接变体的拼接变体整体外基因组测序的测序

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相关概念视频

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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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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