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

• Hoofdauteurs: Fazakas Ferenc (Auteur), Toth Miklos (Auteur), Balogh Katalin (Auteur), Gergics Peter (Auteur), Patocs Attila (Auteur), Liko Istvan (Auteur), Racz Karoly (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2008-04-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...