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

• Main Authors: Losonczy Gergely (Author), Fazakas Ferenc (Author), Pfliegler György (Author), Komáromi István (Author), Balázs Erzsébet (Author), Pénzes Krisztina (Author), Berta András (Author)
• Formato: Livro
• Publicado em: BMC, 2013-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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...