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A knock-in mouse model of human PHD2 gene-associated erythrocytosis establishes a haploinsufficiency mechanism.
Arsenault, Patrick R; Pei, Fei; Lee, Rebecca; Kerestes, Heddy; Percy, Melanie J; Keith, Brian; Simon, M Celeste; Lappin, Terence R J; Khurana, Tejvir S; Lee, Frank S.
Afiliación
  • Arsenault PR; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • Pei F; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • Lee R; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • Kerestes H; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • Percy MJ; Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland BT9 7AB, United Kingdom.
  • Keith B; Department of Cancer Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • Simon MC; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104; Howard Hughes Medical Institute, Philadelphia, Pennsylvani
  • Lappin TRJ; Centre for Cancer Research and Cell Biology, Queen's University, Belfast, Northern Ireland BT9 7BL, United Kingdom.
  • Khurana TS; Department of Physiology and Pennsylvania Muscle Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • Lee FS; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104. Electronic address: franklee@mail.med.upenn.edu.
J Biol Chem ; 288(47): 33571-33584, 2013 Nov 22.
Article en En | MEDLINE | ID: mdl-24121508
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Policitemia / Mutación Missense / Haploinsuficiencia / Prolina Dioxigenasas del Factor Inducible por Hipoxia Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: J Biol Chem Año: 2013 Tipo del documento: Article
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Policitemia / Mutación Missense / Haploinsuficiencia / Prolina Dioxigenasas del Factor Inducible por Hipoxia Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: J Biol Chem Año: 2013 Tipo del documento: Article