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

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 V...

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Detalhes bibliográficos
Main Authors: Patocs, Attila, Gergics, Peter, Balogh, Katalin, Toth, Miklos, Fazakas, Ferenc, Liko, Istvan, Racz, Karoly
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2364614/
https://ncbi.nlm.nih.gov/pubmed/18416845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-9-29
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