Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology
Background: The von Hippel–Lindau tumour suppressor protein–hypoxia-inducible factor (VHL–HIF)pathway has attracted widespread medical interest as a transcriptional system controlling cellular responses to hypoxia, yet insights into its role in systemic human physiology remain limited. Chuvash polycythaemia has recently been defined as a new form of VHL-associated disease, distinct from the classical VHL-associated inherited cancer syndrome, in which germline homozygosity for a hypomorphic VH...Expand abstract
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- Peer review status:
- Peer reviewed
- Publisher's version
- Copyright holder:
- Smith, T. G. et al.
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Citation: Smith TG, Brooks JT,
Balanos GM, Lappin TR, Layton DM,
et al. (2006) Mutation of von Hippel–
Lindau tumour suppressor and
human cardiopulmonary physiology.
PLoS Med 3(7): e290. DOI: 10.1371/
journal.pmed.0030290 . This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.
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