Ser80Ile mutation and a concurrent Pro25Leu variant of the <it>VHL </it>gene in an extended Hungarian von Hippel-Lindau family

• Main Authors: Fazakas Ferenc (Author), Toth Miklos (Author), Balogh Katalin (Author), Gergics Peter (Author), Patocs Attila (Author), Liko Istvan (Author), Racz Karoly (Author)
• Format: Book
• Published: BMC, 2008-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Von Hippel-Lindau disease (VHL) is a rare autosomal dominant disease characterized by development of cystic and tumorous lesions at multiple sites, including the brain, spinal cord, kidneys, adrenals, pancreas, epididymis and eyes. The clinical phenotype results...