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Erythrocytosis associated with a novel missense mutation in the HIF2A gene
R. van Wijk
, S. Sutherland
, A.C.W. van Wesel
,
E.G. Huizinga
, M.J. Percy
, M.B. Bierings
, F.S. Lee
University Medical Center Utrecht
extern
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Keyphrases
Novel mutation
100%
Hypoxia-inducible factor-2α (HIF-2α)
100%
Erythrocytosis
100%
Hypoxia-inducible Factor 2
75%
Hypoxia-inducible Factor
75%
Prolyl Hydroxylase Domain 2
50%
Erythropoietin
50%
Transcription Factor
25%
Amino Acid Substitution
25%
Hydroxylation
25%
Hydroxylated
25%
Von Hippel-Lindau Disease
25%
Von Hippel-Lindau
25%
Biochemistry, Genetics and Molecular Biology
Missense Mutation
100%
Hypoxia-Inducible Factors
100%
Procollagen-Proline Dioxygenase
33%
Protein Tertiary Structure
33%
Isoform
16%
Hydroxylation
16%
C-Terminus
16%
Amino Acid Substitution
16%
Transcription Factors
16%