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Identification of 3 novel VHL germ-line mutations in Danish VHL patients

BACKGROUND: 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. METHODS: VHL mutationa...

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Detalles Bibliográficos
Autores principales: Dandanell, Mette, Friis-Hansen, Lennart, Sunde, Lone, Nielsen, Finn C, Hansen, Thomas v O
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458949/
https://www.ncbi.nlm.nih.gov/pubmed/22799452
http://dx.doi.org/10.1186/1471-2350-13-54