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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 affected individuals in the 16 families shared the same VHL haplotype indicating a founder effect. This missense mutation at...

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PMID: 7759077
DOI: 10.1007/BF00223868

Genes

VHL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect.PMID 7759077Read ↗

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