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文献和实验Molecular Analysis of the von Hippel-Lindau Disease Gene
Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that predisposes the affected individual to develop characteristic tumors. These include CNS hemangioblastoma, retinal angiomas, endolymphatic sac tumors, pancreatic cysts
Polymerase Chain Reaction Detection of DNA Sequence Deletions
to disable tumor suppression (1 ). As might be expected, the effect of “two hits” on tumor-suppressor gene integrity—e.g., deletion of one allele and mutation of the remaining allele—would disable the gene from encoding gene product. The von Hippel-Lindau
Transcriptional Regulation of Genes via Hypoxia-Inducible Factor
Hypoxia-inducible factor (HIF) is the principal transcription factor that regulates adaptive physiologic responses to compromised oxygen tension. von Hippel–Lindau (VHL) tumor-suppressor protein binds and ubiquitylates the catalytic α subunit
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