PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma
PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma
About this item
Full title
Author / Creator
Publisher
Waltham, MA: Massachusetts Medical Society
Journal title
Language
English
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Publication information
Publisher
Waltham, MA: Massachusetts Medical Society
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More information
Scope and Contents
Contents
A man with erythrocytosis of undetermined cause was found to have a mutation in the prolyl hydroxylase domain 2 gene (
PHD2
), the product of which regulates hypoxia-inducible factor (HIF), a transcription factor that activates hypoxia-inducible genes. A recurrent paraganglioma was subsequently found. The evidence implicates
PHD2
as a t...
Alternative Titles
Full title
PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma
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Record Identifier
TN_cdi_proquest_miscellaneous_69910855
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69910855
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa0806277
