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Genetic and functional insights into CDA-I prevalence and pathogenesis.
Olijnik, Aude-Anais; Roy, Noémi B A; Scott, Caroline; Marsh, Joseph A; Brown, Jill; Lauschke, Karin; Ask, Katrine; Roberts, Nigel; Downes, Damien J; Brolih, Sanja; Johnson, Errin; Xella, Barbara; Proven, Melanie; Hipkiss, Ria; Ryan, Kate; Frisk, Per; Mäkk, Johan; Stattin, Eva-Lena Maria; Sadasivam, Nandini; McIlwaine, Louisa; Hill, Quentin A; Renella, Raffaele; Hughes, Jim R; Gibbons, Richard J; Groth, Anja; McHugh, Peter J; Higgs, Douglas R; Buckle, Veronica J; Babbs, Christian.
Affiliation
  • Olijnik AA; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Roy NBA; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Scott C; Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Marsh JA; NIHR Oxford Biomedical Research Centre and BRC/NHS Translational Molecular Diagnostics Centre, John Radcliffe Hospital, Oxford, UK.
  • Brown J; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Lauschke K; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  • Ask K; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Roberts N; Biotech Research and Innovation Centre (BRIC), Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Downes DJ; National Food Institute, Technical University of Denmark, Kongens Lyngby, Denmark.
  • Brolih S; Biotech Research and Innovation Centre (BRIC), Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Johnson E; Eli Lilly Danmark, Herlev, Denmark.
  • Xella B; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Proven M; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Hipkiss R; Department of Oncology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Ryan K; Sir William Dunn School of Pathology, University of Oxford, Oxford, UK.
  • Frisk P; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Mäkk J; Molecular Haematology Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Stattin EM; Molecular Haematology Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Sadasivam N; Haematology Department, Manchester University NHS Foundation Trust, Manchester, UK.
  • McIlwaine L; Department of Women's and Children's Health, Uppsala University and Uppsala University Childrens' Hospital, Uppsala, Sweden.
  • Hill QA; Centre for Health Development, Västmanland Region, Uppsala University, Uppsala, Sweden.
  • Renella R; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
  • Hughes JR; Haematology Department, Manchester University NHS Foundation Trust, Manchester, UK.
  • Gibbons RJ; Department of Haematology, NHS Trust Greater Glasgow and Clyde, Glasgow, UK.
  • Groth A; Department of Haematology, St James's University Hospital, Leeds, UK.
  • McHugh PJ; Pediatric Hematology-Oncology Laboratory, Lausanne University Hospital and University of Lausanne, Lausanne, VD, Switzerland.
  • Higgs DR; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Buckle VJ; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Babbs C; Biotech Research and Innovation Centre (BRIC), Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.
J Med Genet ; 58(3): 185-195, 2021 03.
Article in En | MEDLINE | ID: mdl-32518175
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Nuclear Proteins / Glycoproteins / Genetic Predisposition to Disease / Anemia, Dyserythropoietic, Congenital Type of study: Etiology_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: J Med Genet Year: 2021 Type: Article Affiliation country: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Nuclear Proteins / Glycoproteins / Genetic Predisposition to Disease / Anemia, Dyserythropoietic, Congenital Type of study: Etiology_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: J Med Genet Year: 2021 Type: Article Affiliation country: United kingdom