Article
Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease.
European journal of medical genetics - 1 Mar 2019
Albanyan Saleh, Giles Rachel H, Gimeno Enric Mocholi, Silver Josh, Murphy Jillian, Faghfoury Hanna, Morel Chantal F, Machado Jerry, Kim Raymond H
Abstract excerpt
Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome in which carriers are at an increased risk of developing a variety of tumors in multiple organ systems. A clinical diagnosis of VHL is determined by the presence of specific clinical manifestations while a molecular genetic diagnosis results from a pathogenic variant in the VHL gene. The majority of mutations occur in VHL coding exons and DNA analysis...
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