Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.

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第一作者： Andrea,Domingo-Gallego

第一单位： Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain.

作者： Andrea,Domingo-Gallego ^[1] ; Marc,Pybus ^[2] ; Gemma,Bullich ^[1] ; Mónica,Furlano ^[2] ; Laia,Ejarque-Vila ^[1] ; Laura,Lorente-Grandoso ^[3] ; Patricia,Ruiz ^[2] ; Gloria,Fraga ^[1] ; Mercedes,López González ^[1] ; Juan Alberto,Piñero-Fernández ^[1] ; Lidia,Rodríguez-Peña ^[4] ; Isabel,Llano-Rivas ^[5] ; Raquel,Sáez ^[6] ; Anna,Bujons-Tur ^[7] ; Gema,Ariceta ^[8] ; Lluis,Guirado ^[9] ; Roser,Torra ^[10] ; Elisabet,Ars ^[5]

作者单位： Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain. ^[1] Department of Nephrology, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, Medicine Department, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain. ^[2] Centre Nacional d'Anàlisi Genòmica (CNAG) - Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain. ^[3] Department of Pediatric Nephrology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain. ^[4] Department of Pediatric Nephrology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain. ^[5] Department of Nephrology, Pediatrics Service, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain. ^[6] Department of Clinical Genetics, Pediatrics Service, Hospital Clínico Universitario Virgen de la Arrixaca, Centre for Biomedical Research on Rare Diseases (CIBERER), Murcia, Spain. ^[7] Department of Genetics, Hospital Universitario Cruces, Biocruces Health Research Institute, Centre for Biomedical Research on Rare Diseases (CIBERER), Barakaldo-Bizkaia, Spain. ^[8] Department of Genetics, Hospital Donostia, San Sebastian, Spain. ^[9] Department of Urology, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, Catalonia, Spain. ^[10]

关键词 CKD genetic testing inherited kidney diseases next-generation sequencing, pediatrics