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Frank S. Lee
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Journal Articles

Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis

Margje Sinnema, Daisheng Song, Wei Guan, Johanna W. H. Janssen, Richard van Wijk, Bradleigh E. Navalsky, Kai Peng, Albertine E. Donker, Alexander P. A. Stegmann, Frank S. Lee
Journal: Blood
Blood (2018) 132 (13): 1455–1458.
https://doi.org/10.1182/blood-2018-06-854711
Published: 2018
Journal Articles

HIF-2alpha Associated Familial Erythrocytosis Supports the PHD2-HIF- 2alpha-VHL Axis as the Major Regulator of Erythropoietin Production

Melanie Percy, PhD, Paul W Furlow, Philip A Beer, BM, MRCP, MRCPath, Gavin Campbell, Adriaan W. Dekker, MD, Anthony R. Green, PhD, FRCP, FRCPath, Xiping Li, Scott Sutherland, David Oscier, M. Glenn Rainey, Enid Rivera, Richard van Wijk, Marion Wood, Terence R.J. Lappin, PhD, FRCPath, Mary Frances McMullin, Frank S Lee
Journal: Blood
Blood (2008) 112 (11): 481.
https://doi.org/10.1182/blood.V112.11.481.481
Published: 2008
Journal Articles

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

Brief Report
Melanie J. Percy, Philip A. Beer, Gavin Campbell, Ad W. Dekker, Anthony R. Green, David Oscier, M. Glenn Rainey, Richard van Wijk, Marion Wood, Terence R. J. Lappin, Mary Frances McMullin, Frank S. Lee
Journal: Blood
Blood (2008) 111 (11): 5400–5402.
https://doi.org/10.1182/blood-2008-02-137703
Published: 2008
Journal Articles

Regulation of adult erythropoiesis by prolyl hydroxylase domain proteins

Kotaro Takeda, Hector L. Aguila, Nehal S. Parikh, Xiping Li, Katie Lamothe, Li-Juan Duan, Hiromi Takeda, Frank S. Lee, Guo-Hua Fong
Journal: Blood
Blood (2008) 111 (6): 3229–3235.
https://doi.org/10.1182/blood-2007-09-114561
Published: 2008
Includes: Supplemental data
Journal Articles

Erythrocytosis Caused by Mutations in the PHD2 and VHL Genes.

Melanie J. Percy, PhD, Paul W. Furlow, MS, Frank G.C. Jones, MD, Terry R.J. Lappin, PHD, Frank S. Lee, MD PhD, Mary Frances McMullin, MD
Journal: Blood
Blood (2007) 110 (11): 3663.
https://doi.org/10.1182/blood.V110.11.3663.3663
Published: 2007
Journal Articles

A Novel HIFalpha Mutation Associated with Familial Erythrocytosis Supports This Isoform Being the Major Regulator of Erythropoietin in Humans.

Melanie J. Percy, PhD, Paul W. Furlow, MS, Guy S. Lucas, MD, Xiping Li, MD PHD, Terry R. Lappin, PHD, Mary F. McMullin, MD, Frank S. Lee, MD PHD
Journal: Blood
Blood (2007) 110 (11): LB5.
https://doi.org/10.1182/blood.V110.11.LB5.lb5
Published: 2007
Journal Articles

A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove

Brief Report
Melanie J. Percy, Paul W. Furlow, Philip A. Beer, Terence R. J. Lappin, Mary Frances McMullin, Frank S. Lee
Journal: Blood
Blood (2007) 110 (6): 2193–2196.
https://doi.org/10.1182/blood-2007-04-084434
Published: 2007