title: Novel human pathological mutations. Gene symbol: VHL. Disease: Von Hippel-Lindau syndrome.
authors.affiliation: Università degli Studi di Brescia, Brescia, Italy. castella@med.unibs.it
authors.forename: Maurizio
authors.initials: M
authors.lastname: Castellano
mesh_terms: D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009711:Nucleotides / Q000235:genetics*; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000235:genetics*
chemical_list: D003062:Codon; D009711:Nucleotides; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human