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Autor:
Ji I.n. Lee, Chul Lee, Cheol Ryong Ku, Kyu Yeon Hur, Jin Sung Lee, Myung-Shik Lee, Kyo Yeon Koo, Sena Hwang, Yumie Rhee
Publikováno v:
Journal of human genetics. 59(9)
Von Hippel-Lindau (VHL) disease is an inherited tumor syndrome caused by germline mutations in the VHL tumor suppressor gene. It is characterized by hemangioblastoma in the central nervous system and retina, renal cell carcinoma, pancreatic tumor and