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Article

Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene.

The International journal of neuroscience - 1 Feb 2018

Glushkova Maria, Dimova Petia, Yordanova Iglika, Todorov Tihomir, Tourtourikov Ivan, Mitev Vanyo, Todorova Albena

Abstract excerpt

Von Hippel-Lindau syndrome is an autosomal-dominant disease characterized by the formation of various tumours and cysts in many different parts of the body. Von Hippel-Lindau syndrome is caused by VHL gene mutations leading to production of impaired tumor suppressor Von Hippel-Lindau syndrome protein or its complete absence. PURPOSE: To study five patients with clinically suspected Von Hippel-Lindau syndrome, who...

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Identifiers

PMID: 28849724
DOI: 10.1080/00207454.2017.1372436

Genes

VHL

Provenance

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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