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Article

Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.

Journal of Korean medical science - 1 Feb 2009

Cho Hyun-Jung, Ki Chang-Seok, Kim Jong-Won

Abstract excerpt

von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome characterized by the development of tumors in the eye, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and epididymis, associated with germline mutations in the VHL gene. We used sequentially sequencing method and multiple ligation-dependent probe amplification (MLPA) analysis and detected germline mutations in the...

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Source

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Identifiers

PMID: 19270817
DOI: 10.3346/jkms.2009.24.1.77
PMCID: PMC2650969

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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