伊朗视网膜母细胞瘤患者的基因型-表型相关性和希佩尔-林道氏病的遗传诊断算法

相关实验视频

Updated: Jun 14, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Fatemeh Azimi¹, Masood Naseripour^1,2, Golnaz Khakpoor^1,3

¹Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.

Ophthalmic genetics

|June 13, 2025

概括

分析Von Hippel-Lindau (VHL) 变异发现误解突变与降低中枢神经系统血管母细胞瘤风险有关. 异构3是关键突变部位,指导伊朗人等人口的遗传研究.

科学领域:

遗传学是一个遗传学.
在瘤学瘤学.
分子生物学分子生物学

背景情况:

·希佩尔-林多病 (VHL) 是一种由瘤形成为特征的遗传疾病.
误解 (MS) 突变是最常见的VHL变异,其次是大删除和蛋白质截断突变 (PTM).
突变部位在3号外子 (α域) 中比其他区域 (35%) 更为普遍 (65%).

关键词:

伊朗的RH患者.在MLPA中,我们可以使用MLPA.没有NGS,没有NGS.桑格尔序列是什么意思算法算法是一种算法.

更多相关视频

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

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

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

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

Published on: August 15, 2019

相关概念视频

Genetic Lingo

Genetic Lingo

The Retinoblastoma Gene

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

Pedigree Analysis

Pedigree Analysis