Mutation of von Hippel–Lindau Tumour Suppressor and Human Cardiopulmonary Physiology

@article{Smith2006MutationOV,
  title={Mutation of von Hippel–Lindau Tumour Suppressor and Human Cardiopulmonary Physiology},
  author={Thomas G Smith and Jerome Tremblay Brooks and George Balanos and Terence R. J. Lappin and David Mark Layton and Dawn L Leedham and Chun Hsiu Liu and Patrick Henry Maxwell and Mary Frances McMullin and Christopher J. McNamara and Melanie Joan Percy and Christopher W Pugh and Peter J Ratcliffe and Nick P Talbot and Marilyn Treacy and Peter A. Robbins},
  journal={PLoS Medicine},
  year={2006},
  volume={3},
  pages={176 - 182}
}
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 VHL… CONTINUE READING

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