title: A germline mutation in the von Hippel-Lindau disease gene (L178Q) detected by denaturing gradient gel electrophoresis in a large Jewish-Yemenite family.
authors.affiliation: The Susanne Levy Gertner Oncogentics Unit, the Institute of Endocrinology, and Department of Medicine A, Chaim Sheba Medical Center, Tel-Hashomer, Department of Urology, Benei Zion Medical Center, Haifa, Israel.
authors.forename: O
authors.initials: O
authors.lastname: Jakobovitz-Picard
authors.forename: D
authors.initials: D
authors.lastname: Olchovsky
authors.forename: O
authors.initials: O
authors.lastname: Nativ
authors.forename: M B
authors.initials: MB
authors.lastname: Resnick
authors.forename: G
authors.initials: G
authors.lastname: Rechavi
authors.forename: A
authors.initials: A
authors.lastname: Karasik
authors.forename: E
authors.initials: E
authors.lastname: Friedman
mesh_terms: D002893:Chromosomes, Human, Pair 3; D004586:Electrophoresis; D018095:Germ-Line Mutation; D006801:Humans; D007585:Jews; D008025:Ligases; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D015006:Yemen / Q000208:ethnology
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