A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

Abstract Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease. Methods Genomic DNA was...

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Bibliographic Details
Main Authors: Xing Wu, Lanlan Chen, Yixin Zhang, Hainan Xie, Meirong Xue, Yi Wang, Houbin Huang
Format: Article
Language:English
Published: BMC 2018-11-01
Series:BMC Medical Genetics
Subjects:
VHL
Missense mutation
W117R
Online Access:http://link.springer.com/article/10.1186/s12881-018-0716-4

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