Article
Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family.
BMC medical genetics - 16 Apr 2008
Patocs Attila, Gergics Peter, Balogh Katalin, Toth Miklos, Fazakas Ferenc, Liko Istvan, Racz Karoly
Abstract excerpt
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 from molecular abnormalities of the VHL tumor suppressor gene, mapped to human chromosome 3p25-26. The VHL gene encodes two functionally active VHL...
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