相关实验视频

Updated: Jul 16, 2025

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

8.7K

在正常神经发育的女性中发现新的致病性UQCRC2变异

Lea Abou Haidar1,2, Robert C Harris1,2, Panayotis Pachnis1,3

  • 1Children's Medical Center Research Institute, UT Southwestern Medical Center, Dallas, Texas 75390, USA.

Cold Spring Harbor molecular case studies
|September 14, 2023
PubMed
概括

这项研究详细介绍了一例罕见的患者,该患者患有乌比奎诺-细胞染色体c还原酶核心蛋白2 (UQCRC2) 缺乏,这是一种电子运输链障碍. 与大多数患者不同,这个人没有表现出神经发育问题,尽管有严重的代谢异常.

关键词:
严重的急性高血血.线粒体复合体III的活性下降.禁食低血糖症 禁食低血糖症压力/感染引起的乳酸性酸症.

更多相关视频

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.7K

相关概念视频

Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.3K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
275