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A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.

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第一作者： Noel,Edwards

第一单位： Institute for Cell and Molecular Biosciences, Newcastle University Medical School, Newcastle upon Tyne, UK.

作者： Noel,Edwards ^[1] ; Eric,Olinger ^[2] ; Jennifer,Adam ^[3] ; Michael,Kelly ^[3] ; Guglielmo,Schiano ^[2] ; Simon A,Ramsbottom ^[1] ; Richard,Sandford ^[4] ; Olivier,Devuyst ^[2] ; John A,Sayer ^[5]

作者单位： Institute for Cell and Molecular Biosciences, Newcastle University Medical School, Newcastle upon Tyne, UK. ^[1] Institute of Physiology, University of Zurich, CH-8057 Zurich, Switzerland. ^[2] Renal Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. ^[3] Academic Department of Medical Genetics, Cambridge Biomedical Campus, Cambridge, UK. ^[4] Renal Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.;Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK. ^[5]

关键词 Tamm-Horsfall protein gout homozygous mutation tubulointerstitial kidney disease uromodulin