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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Detalles Bibliográficos
Autores principales: Patocs, Attila, Gergics, Peter, Balogh, Katalin, Toth, Miklos, Fazakas, Ferenc, Liko, Istvan, Racz, Karoly
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2364614/
https://www.ncbi.nlm.nih.gov/pubmed/18416845
http://dx.doi.org/10.1186/1471-2350-9-29

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