Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma

BACKGROUND: Von Hippel-Lindau disease is an autosomal dominantly inherited highly penetrant tumor syndrome predisposing to retinal and central nervous system hemangioblastomas, renal cell carcinoma and phaeochromocytoma among other less frequent complications. METHODS: Molecular genetic testing of t...

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Detalles Bibliográficos
Autores principales: Losonczy, Gergely, Fazakas, Ferenc, Pfliegler, György, Komáromi, István, Balázs, Erzsébet, Pénzes, Krisztina, Berta, András
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3556325/
https://www.ncbi.nlm.nih.gov/pubmed/23298237
http://dx.doi.org/10.1186/1471-2350-14-3

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