Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online

Van Hippel-Lindau disease (VHL) is an autosomal dominantly inherited disorder, characterised by the development of clear cell renal carcinomas, CNS hemangioblastomas, retinal angiomas, pancreatic tumors, pheochromocytomas and hepatic cysts. Recently a number of families with dominant familial pheoch...

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Veröffentlicht in:	Human mutation 1998, Vol.12 (1), p.71-71
Hauptverfasser:	Martin, R, Hockey, A, Walpole, I, Goldblatt, J
Format:	Artikel
Sprache:	eng
Schlagworte:	Genes, Tumor Suppressor - genetics Humans Ligases Mutation - genetics Penetrance Pheochromocytoma - genetics Proteins - genetics Tumor Suppressor Proteins Ubiquitin-Protein Ligases von Hippel-Lindau Disease - genetics Von Hippel-Lindau Tumor Suppressor Protein
Online-Zugang:	Volltext
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