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

• Main Authors: Xing Wu (Author), Lanlan Chen (Author), Yixin Zhang (Author), Hainan Xie (Author), Meirong Xue (Author), Yi Wang (Author), Houbin Huang (Author)
• Format: Book
• Published: BMC, 2018-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...