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

• मुख्य लेखकों: Losonczy Gergely (लेखक), Fazakas Ferenc (लेखक), Pfliegler György (लेखक), Komáromi István (लेखक), Balázs Erzsébet (लेखक), Pénzes Krisztina (लेखक), Berta András (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2013-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...