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Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology.

Abstract:

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 V...

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Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Role:
Author
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Journal:
PLoS medicine
Volume:
3
Issue:
7
Pages:
e290
Publication date:
2006-07-05
DOI:
EISSN:
1549-1676
ISSN:
1549-1277
URN:
uuid:0fe31a9c-1dc6-42da-aa23-0811851c72df
Source identifiers:
24924
Local pid:
pubs:24924

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