A germline mutation in the von Hippel-Lindau disease gene (L178Q) detected by denaturing gradient gel electrophoresis in a large Jewish-Yemenite family.
Jakobovitz-Picard
O
O
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.
Olchovsky
D
D
Nativ
O
O
Resnick
M B
MB
Rechavi
G
G
Karasik
A
A
Friedman
E
E
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
D011506:Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human