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

• मुख्य लेखकों: Xing Wu (लेखक), Lanlan Chen (लेखक), Yixin Zhang (लेखक), Hainan Xie (लेखक), Meirong Xue (लेखक), Yi Wang (लेखक), Houbin Huang (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2018-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...