A Novel RNF139 Mutation in Hemangioblastomas: Case Report

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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, SC;Li, F

作者机构：

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

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

通讯机构：

[Li, F ; Zou, SC ] H

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：

This work was supported by grants from the National Natural Science Foundation of China (Grant No. 81603512, 81874429), Natural Science Foundation of Hunan Province (Grant No. 2018JJ2289), Foundation of Health and Family Planning Commission of Hunan Province (Grant No. B2016030), and Chinese Medicine Science & Research Project of Hunan Province (Grant No. 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...

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A Novel RNF139 Mutation in Hemangioblastomas: Case Report

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