Article
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
Human mutation - 1 Jan 1996
Zbar B, Kishida T, Chen F, Schmidt L, Maher E R, Richards F M, Crossey P A, Webster A R, Affara N A, Ferguson-Smith M A, Brauch H, Glavac D, Neumann H P, Tisherman S, Mulvihill J J, Gross D J, Shuin T, Whaley J, Seizinger B, Kley N, Olschwang S, Boisson C, Richard S, Lips C H, Lerman M
Abstract excerpt
Germline mutation analysis was performed in 469 VHL families from North America, Europe, and Japan. Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected. Most of the germline VHL mutations (124/137) occurred in 1-2 fa...
Topics
- Adrenal Gland Neoplasms
- Asian People
- Ethnicity
- Europe
- Family
- Genes, Tumor Suppressor
- Genotype
- Humans
- Introns
- Israel
- Japan