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Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma

BACKGROUND: Von Hippel-Lindau disease is an autosomal dominantly inherited highly penetrant tumor syndrome predisposing to retinal and central nervous system hemangioblastomas, renal cell carcinoma and phaeochromocytoma among other less frequent complications. METHODS: Molecular genetic testing of t...

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Bibliografski detalji
Glavni autori: Losonczy, Gergely, Fazakas, Ferenc, Pfliegler, György, Komáromi, István, Balázs, Erzsébet, Pénzes, Krisztina, Berta, András
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2013
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3556325/
https://ncbi.nlm.nih.gov/pubmed/23298237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-3
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