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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.

Losonczy G, Fazakas F, Pfliegler G, Komáromi I, Balázs E, Pénzes K, Berta A.

BMC Med Genet. 2013 Jan 8;14:3. doi: 10.1186/1471-2350-14-3.


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

Patocs A, Gergics P, Balogh K, Toth M, Fazakas F, Liko I, Racz K.

BMC Med Genet. 2008 Apr 16;9:29. doi: 10.1186/1471-2350-9-29.

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