Von Hippel‐Lindau Syndrome

Abstract excerpt

After a decade of intensive clinical and molecular genetic efforts the von Hippel‐Lindau (VHL) gene was cloned in 1993. The open reading frame encodes the putative protein of 284 amino acids. A large number of different mutations have been identified so far, including single base mutations, deletions, rearrangements and more complex mutations. So far, in about 75% of the VHL families germline mutations were detect...

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• Glioma Diagnosis and Treatment
• Cancer Genomics and Diagnostics
• Cancer, Hypoxia, and Metabolism

Identifiers and source

Literature Corpus work

1898d4c5-6b18-5572-b3b6-581fd5b98388

DOI

10.1111/j.1750-3639.1995.tb00592.x