Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel-Lindau disease: case report

• मुख्य लेखकों: Zhen Liu (लेखक), Jingcheng Zhou (लेखक), Liang Li (लेखक), Zhiqiang Yi (लेखक), Runchun Lu (लेखक), Chunwei Li (लेखक), Kan Gong (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-10-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Central nervous system (CNS) hemangioblastomas are the most frequent cause of mortality in patients with Von Hippel-Lindau (VHL) disease, an autosomal dominant genetic disease resulting from germline mutations in the VHL tumor suppressor gene, with most mutations occurring in the...