Article
Identification of a novel duplication mutation in the VHL gene in a large Chinese family with Von Hippel-Lindau (VHL) syndrome.
Genetics and molecular research : GMR - 4 Dec 2014
Cao L H, Kuang B H, Chen C, Hu C, Sun Z, Chen H, Wang S S, Luo Y
Abstract excerpt
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina, renal cysts, clear cell renal cell carcinoma, and pheochromocytoma. VHL is caused by mutations in the VHL tumor suppressor gene. We attempted to detect mutation in the VHL gene in a 5-gen...
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