相关实验视频

Updated: May 2, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.2K

通过使用新型小基因系统对MMACHC变体的实验洞察力

Yan Dong1, Xiaowei Xu2, Weiran Li3

  • 1Clinical School of Pediatrics, Tianjin Medical University, Tianjin, China; Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin, China.

Molecular genetics and metabolism
|November 23, 2025
PubMed
概括

在MMACHC基因的遗传变异导致cblC疾病. 这项研究开发了一种新的系统来测试MMACHC拼接变种,确定了14种破坏拼接的变种和10种降低蛋白质水平的变种,有助于早期诊断.

关键词:
功能验证的功能验证这是一个MMACHC基因.甲基马洛尼酸血症 甲基马洛尼酸血症一个微型的基因通过RNA拼接进行RNA拼接.拼接的变体是拼接的变体.

更多相关视频

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.5K
Using the E1A Minigene Tool to Study mRNA Splicing Changes10:25

Using the E1A Minigene Tool to Study mRNA Splicing Changes

Published on: April 22, 2021

5.4K

相关概念视频

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
138