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Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.

Oncology reports - 1 Oct 2005

Kang Hio Chung, Kim Il-Jin, Park Jae-Hyun, Shin Yong, Jang Sang-Geun, Ahn Sun-A, Park Hye-Won, Lim Sun-Kyung, Oh Seung Keun, Kim Dae Jung, Lee Kwan Woo, Choi Young-Sik, Park Young Joo, Lee Min Ro, Kim Duck-Woo, Park Jae-Gahb

Abstract excerpt

Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome associated with germline mutations in the VHL gene. VHL disease, as well as several other cancer syndromes, has been associated with an increased risk of pheochromocytomas, which are catecholamine-secreting tumors of the adrenal gland. VHL disease genotype-phenotype correlations have been well established based on the type of...

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Identifiers

PMID: 16142346

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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.PMID 16142346Read ↗

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Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.Semantic proximity Read ↗

Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.Semantic proximity Read ↗

Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.Semantic proximity Read ↗

Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.Semantic proximity Read ↗

Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.Semantic proximity Read ↗

Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.Semantic proximity Read ↗

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