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

• Egile Nagusiak: Losonczy Gergely (Egilea), Fazakas Ferenc (Egilea), Pfliegler György (Egilea), Komáromi István (Egilea), Balázs Erzsébet (Egilea), Pénzes Krisztina (Egilea), Berta András (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2013-01-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...