Article
Identification of the von Hippel-Lindau disease tumor suppressor gene.
Science (New York, N.Y.) - 28 May 1993
Latif F, Tory K, Gnarra J, Yao M, Duh F M, Orcutt M L, Stackhouse T, Kuzmin I, Modi W, Geil L
Abstract excerpt
A gene discovered by positional cloning has been identified as the von Hippel-Lindau (VHL) disease tumor suppressor gene. A restriction fragment encompassing the gene showed rearrangements in 28 of 221 VHL kindreds. Eighteen of these rearrangements were due to deletions in the candidate gene, including three large nonoverlapping deletions. Intragenic mutations were detected in cell lines derived from VHL patients...
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