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

• Váldodahkkit: Zhen Liu (Dahkki), Jingcheng Zhou (Dahkki), Liang Li (Dahkki), Zhiqiang Yi (Dahkki), Runchun Lu (Dahkki), Chunwei Li (Dahkki), Kan Gong (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2020-10-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: 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...