相关实验视频

Updated: Jun 27, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

24.3K

病例报告:一个罕见的DLST突变在患有转移性叶绿细胞瘤的患者:临床影响和管理挑战

Chang Li1, Liang Han2, Yuming Song1

  • 1Department of VIP Unit, China-Japan Union Hospital of Jilin University, Changchun, Jilin, China.

Frontiers in oncology
|June 5, 2024
PubMed
概括

在一个患有转移性染细胞瘤的患者中发现了一种罕见的二利胺糖转移酶 (DLST) 基因突变. 基因测序对于管理这种遗传性癌症至关重要,因为症状多样化和治疗方法有限.

关键词:
案例报告案例报告二利胺二利胺糖转移酶外基因组测序是指外基因组的测序.新生体转移的转移.叶染色细胞瘤 ( pheochromocytoma) 是一种致血性细胞瘤.

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
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

13.6K

相关概念视频

Adrenal Gland Disorders01:27

Adrenal Gland Disorders

Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...