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Article

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

Journal of human genetics - 1 Sept 2014

Hwang Sena, Ku Cheol Ryong, Lee Ji In, Hur Kyu Yeon, Lee Myung-Shik, Lee Chul-Ho, Koo Kyo Yeon, Lee Jin-Sung, Rhee Yumie

Abstract excerpt

Von Hippel-Lindau (VHL) disease is an inherited tumor syndrome caused by germline mutations in the VHL tumor suppressor gene. It is characterized by hemangioblastoma in the central nervous system and retina, renal cell carcinoma, pancreatic tumor and cysts, and pheochromocytoma. In this study, we detected 26 germline mutations in the VHL gene of Korean patients, of which 1 was a novel mutation, c.417_418insT. We...

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Identifiers

PMID: 25078357
DOI: 10.1038/jhg.2014.61

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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