title: Novel human pathological mutations. Gene symbol: VHL. Disease: Von Hippel-Lindau syndrome.
authors.affiliation: Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA. ellison.jay@mayo.edu
authors.forename: Jay
authors.initials: J
authors.lastname: Ellison
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics; D019943:Amino Acid Substitution; D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D010673:Pheochromocytoma / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000235:genetics*
chemical_list: D003062:Codon; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human