Avtor/Urednik | Glavač, Damjan; Brauch, Hiltrud | |
Naslov | Molecular genetics of the von Hippel-Lindau syndrome | |
Tip | članek | |
Vir | In: Osmak M, Škrk J, editors. Molecular oncology today. Proceedings of the Croatian-Slovenian meeting; 1995 Dec 19; Zagreb. Zagreb: Croatian ligue against cancer, | |
Leto izdaje | 1996 | |
Obseg | str. 23-7 | |
Jezik | eng | |
Abstrakt | Von Hippel-Lindau disease (VHL) is an autosomal dominant disorder with inherited susceptibility to various forms of cancer. VHL gene has been recently identified by positional cloning strategy. In several genetic studies, a large number of mutations have been identified so far including point mutations, rearrangements and even more complex mutations. These results enable some phenotype-genotype relationships and provide an innsight in the pathogenesis of this multiorgan cancer susceptibility tumor suppressor gene. | |
Deskriptorji | HIPPEL-LINDAU DISEASE POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL MUTATION GENOTYPE PHENOTYPE KIDNEY NEOPLASMS |