Article
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.
Human molecular genetics - 1 Aug 1994
Crossey P A, Richards F M, Foster K, Green J S, Prowse A, Latif F, Lerman M I, Zbar B, Affara N A, Ferguson-Smith M A
Abstract excerpt
Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal haemangioblastoma, renal cell carcinoma, phaeochromocytoma and pancreatic tumours. We have previously detected large germline deletions by Southern analysis and pulsed field gel electrophoresis in 19% and 3% of VHL patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.