Article
A family with hereditary extra-adrenal paragangliomas without evidence for mutations in the von Hippel-Lindau disease or ret genes.
Clinical endocrinology - 1 Jan 1998
Sköldberg F, Grimelius L, Woodward E R, Rorsman F, Van Schothorst E W, Winqvist O, Karlsson F A, Akerström G, Kämpe O, Husebye E S
Abstract excerpt
OBJECTIVES: To characterize a family with hereditary paraganglioma, and to search for germline mutations in the von Hippel-Lindau disease (VHL) tumour suppressor gene and the ret proto-oncogene. DESIGN: Patient records and histopathological reports were reviewed. Available tumour samples were reinvestigated using immunohistochemical techniques. The VHL gene was investigated by single strand conformational...
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