A Novel RNF139 Mutation in Hemangioblastomas: Case Report

首页 > 成果 > 详情

认领

导出

Link by DOI

反馈

作者信息关键词期刊信息基础信息归属信息摘要

成果类型：

期刊论文

作者：

Yang, Ping;Li, Liang;Zhang, Wei;Liu, Bo;Li, Ling;...

通讯作者：

Zou, Shucheng;Li, Feng

作者机构：

[Yang, Ping; Liu, Bo; Liu, Kun; Liu, Hua; Zou, Shucheng; Li, Ling; Huang, Hongxing] Hunan Univ Chinese Med, Hunan Brain Hosp, Dept Neurosurg, Clin Med Sch, Changsha, Hunan, Peoples R China.

[Li, Liang; Li, Feng; Huang, Huiyong] Hunan Univ Chinese Med, Prov Key Lab TCM Diagnost, Changsha, Hunan, Peoples R China.

[Zhang, Wei] Hunan Univ Chinese Med, Discipline Chinese & Western Integrat Med, Changsha, Hunan, Peoples R China.

[Li, Feng] Univ Calif Los Angeles, Sch Dent, Los Angeles, CA 90024 USA.

通讯机构：

[Zou, Shucheng; Li, Feng] H

[Li, Feng] U

Hunan Univ Chinese Med, Hunan Brain Hosp, Dept Neurosurg, Clin Med Sch, Changsha, Hunan, Peoples R China.

Hunan Univ Chinese Med, Prov Key Lab TCM Diagnost, Changsha, Hunan, Peoples R China.

Univ Calif Los Angeles, Sch Dent, Los Angeles, CA 90024 USA.

语种：

英文

关键词：

hemangioblastomas;RNF139;Mutation;next-generation sequencing (NGS);Sanger sequencing

期刊：

Frontiers in Neurology

ISSN：

1664-2295

年：

2019

卷：

期：

APR

页码：

433143

DOI：

10.3389/fneur.2019.00359

基金类别：

National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81603512, 81874429]; Natural Science Foundation of Hunan ProvinceNatural Science Foundation of Hunan Province [2018JJ2289]; Foundation of Health and Family Planning Commission of Hunan Province [B2016030]; Chinese Medicine Science & Research Project of Hunan Province [201818]

机构署名：

本校为第一且通讯机构

院系归属：

中医学院

临床医学院

中医诊断研究所

摘要：

Hemangioblastomas (HBs) are classified as grade I tumors with uncertain origin according to the World Health Organization's classification system. HBs are characterized by rich mesenchymal cells and abundant capillaries. It has been shown that tumorigenesis of HBs depends on mutational inactivation of Von Hippel-Lindau (VHL) tumor suppressor gene. Therefore, the majority of patients will undergo VHL single gene test, and sequencing scheme is rarely used in clinic. In this study, we described a girl and her father successively found to have HBs within half a year. The results of next-generation...

反馈

产权有误：本人成果被他人认领

数据有误：数据基本信息有误

归属有误：成果的院系归属、机构署名归属有误

其他原因：

验证码：

看不清楚，换一个

确定

取消

成果认领

标题：

用户	作者	通讯作者	--
	请选择	请选择	--

确定

取消

A Novel RNF139 Mutation in Hemangioblastomas: Case Report

反馈

成果认领

提示

该栏目需要登录且有访问权限才可以访问