作者: Othon Iliopoulos , Adam Kibel , Steven Gray , William G. Kaelin
DOI: 10.1038/NM0895-822
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摘要: A partial cDNA sequence for the gene linked to von Hippel-Lindau (VHL) syndrome was reported in 1993. Mutation or loss of both VHL alleles has been documented sporadic renal cell carcinomas and neoplasms that arise kindreds. We have determined protein product is an approximately 30 kilodalton cytoplasmic protein. The carcinoma line 786-O known harbour a mutation and, as shown here, fails produce wild-type Reintroduction wild-type, but not mutant, into these cells had no demonstrable effect on their growth vitro inhibited ability form tumours nude mice.