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Article

Mutation of the von Hippel-Lindau gene alters human cardiopulmonary physiology.

Advances in experimental medicine and biology - 1 Jan 2008

Smith T G, Brooks J T, Balanos G M, Lappin T R, Layton D M, Leedham D L, Liu C, Maxwell P H, McMullin M F, McNamara C J, Percy M J, Pugh C W, Ratcliffe P J, Talbot N P, Treacy M, Robbins P A

Abstract excerpt

Intracellular responses to hypoxia are coordinated by the von Hippel-Lindau--hypoxia-inducible factor (VHL-HIF) transcriptional system. This study investigated the potential role of the VHL-HIF pathway in human systems-level physiology. Patients diagnosed with Chuvash polycythaemia, a rare disorder in which VHL signalling is specifically impaired, were studied during acute hypoxia and hypercapnia. Subjects...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18085246
DOI: 10.1007/978-0-387-73693-8_9

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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Mutation of the von Hippel-Lindau gene alters human cardiopulmonary physiology.PMID 18085246Read ↗

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