Article
Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect.
Human genetics - 1 May 1995
Brauch H, Kishida T, Glavac D, Chen F, Pausch F, Höfler H, Latif F, Lerman M I, Zbar B, Neumann H P
Abstract excerpt
We identified a germline missense mutation at nucleotide 505 (T to C) of the VHL tumor suppressor gene in 14, apparently unrelated, VHL type 2A families from the Black Forest region of Germany. This mutation was previously identified in two VHL 2A families living in Pennsylvania (USA). All affect...
Topics
- Adrenal Gland Neoplasms
- Alleles
- Base Sequence
- DNA Mutational Analysis
- DNA Primers
- Electrophoresis, Agar Gel
- Female
- Founder Effect
- Genes, Tumor Suppressor
- Germ-Line Mutation
- Germany
- Haplotypes
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Pennsylvania
- Pheochromocytoma