@article{769e7137fdba4fbbb614344f4bae36b8,
title = "Identification of 3 novel VHL germ-line mutations in Danish VHL patients",
abstract = "von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome in which the patients develop retinal and central nervous system hemangioblastomas, pheochromocytomas and clear-cell renal tumors. The autosomal dominant disease is caused by mutations in the VHL gene.",
keywords = "Adolescent, Adult, Aged, Aged, 80 and over, Base Sequence, Child, Child, Preschool, DNA Mutational Analysis, Denmark, Female, Germ-Line Mutation, Humans, Infant, Male, Middle Aged, Molecular Sequence Data, Pedigree, Von Hippel-Lindau Tumor Suppressor Protein, Young Adult, von Hippel-Lindau Disease",
author = "Mette Dandanell and Lennart Friis-Hansen and Lone Sunde and Nielsen, {Finn C} and Hansen, {Thomas V O}",
year = "2012",
doi = "10.1186/1471-2350-13-54",
language = "English",
volume = "13",
pages = "54",
journal = "B M C Medical Genetics",
issn = "1471-2350",
publisher = "BioMed Central Ltd",
}