相关实验视频

Updated: Jun 28, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.6K

SDHB致病变体载体的结果

Dahlia F Davidoff1,2,3, Richard De Abreu Lourenco4, Venessa H M Tsang1,2,3

  • 1Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, St Leonards, NSW 2065, Australia.

The Journal of clinical endocrinology and metabolism
|April 11, 2024
PubMed
概括

在B型糖酸脱酶 (SDHB) 中的生殖系病原体变异 (PVs) 显著增加了发病染细胞瘤和偏角细胞瘤 (PPGLs) 的风险. 建议进行终身监测,因为依赖于年龄的透率和转移性疾病和二次瘤的风险.

关键词:
SDHB SDHB是什么意思帕拉格里奥马马是什么意思叶染色细胞瘤 ( pheochromocytoma) 是一种致血性细胞瘤.简化脱酶的作用.

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

33.7K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.7K

相关概念视频

Probability Laws01:49

Probability Laws

Overview
40.8K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
13.4K
Genetic Lingo01:11

Genetic Lingo

Overview
102.7K
Pedigree Analysis01:35

Pedigree Analysis

Overview
84.2K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.0K
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
34.2K