Author/Editor		Glavač, Damjan; Brauch, Hiltrud
Title		Molecular genetics of the von Hippel-Lindau syndrome
Type		članek
Source		In: Osmak M, Škrk J, editors. Molecular oncology today. Proceedings of the Croatian-Slovenian meeting; 1995 Dec 19; Zagreb. Zagreb: Croatian ligue against cancer,
Publication year		1996
Volume		str. 23-7
Language		eng
Abstract		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.
Descriptors		HIPPEL-LINDAU DISEASE POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL MUTATION GENOTYPE PHENOTYPE KIDNEY NEOPLASMS