Article
The N131S mutation in the von Hippel-Lindau gene in a Japanese family with pheochromocytoma and hemangioblastomas.
Endocrine journal - 1 Dec 2006
Imanaka Mari, Iida Keiji, Takahashi Kentaro, Tsuji Kazuo, Nishizawa Hitoshi, Fukuoka Hidenori, Takeno Ryoko, Takahashi Yutaka, Okimura Yasuhiko, Kaji Hidesuke, Chihara Kazuo
Abstract excerpt
von Hippel-Lindau (VHL) disease (VHLD) is a hereditary autosomal dominant syndrome that causes various benign and malignant tumors. VHLD is caused by mutations in the VHL tumor suppressor gene. Here, we report a mutation in the VHL gene in a Japanese family with VHLD type 2A, characterized by pheochromocytoma (PHE), and hemangioblastomas (HAB) in both the retina and thoracic spinal cord but without renal cell...
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