title: Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
abstract: A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A.
authors.affiliation: Science Applications International Corp, Frederick, MD 21702, USA.
authors.forename: F
authors.initials: F
authors.lastname: Chen
authors.forename: L
authors.initials: L
authors.lastname: Slife
authors.forename: T
authors.initials: T
authors.lastname: Kishida
authors.forename: J
authors.initials: J
authors.lastname: Mulvihill
authors.forename: S E
authors.initials: SE
authors.lastname: Tisherman
authors.forename: B
authors.initials: B
authors.lastname: Zbar
mesh_terms: D004252:DNA Mutational Analysis; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D005838:Genotype; D005858:Germany / Q000208:ethnology; D006801:Humans; D008025:Ligases; D010414:Pennsylvania / Q000453:epidemiology; D010641:Phenotype; D010673:Pheochromocytoma / Q000150:complications / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000235:genetics*
chemical_list: D011506:Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human