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A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5

1994; Wiley; Volume: 3; Issue: 4 Linguagem: Inglês

10.1002/humu.1380030410

1098-1004

Bernard Peissel, Sandro Rossetti, Alessandra Renieri, Lucia Galli, Mario Marchi, Graziana Battini, Mietta Meroni, Adalberto Sessa, Salvatore Schiavano, Pier Franco Pignatti, Alberto Turco,

Connective tissue disorders research

Human MutationVolume 3, Issue 4 p. 386-390 Mutation in Brief A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5 Bernard Peissel, Bernard Peissel Institute of Biological Sciences and Genetics, University of Verona School of Medicine, University Hospital Polyclinic, 37134 Verona, Italy; Fax: 39-45-8098-180Search for more papers by this authorSandro Rossetti, Sandro Rossetti Institute of Biological Sciences and Genetics, University of Verona School of Medicine, University Hospital Polyclinic, 37134 Verona, Italy; Fax: 39-45-8098-180Search for more papers by this authorAlessandra Renieri, Alessandra Renieri Department of Molecular Biology and Medical Genetics, University of Siena, 53100 Siena, Italy; Fax: 39-45-8098-180Search for more papers by this authorLucia Galli, Lucia Galli Department of Molecular Biology and Medical Genetics, University of Siena, 53100 Siena, Italy; Fax: 39-45-8098-180Search for more papers by this authorMario De Marchi, Mario De Marchi Department of Clinical and Biological Sciences, University of Turin, 10043 Orbassano, Italy; Fax: 39-45-8098-180Search for more papers by this authorGraziana Battini, Graziana Battini Unit of Nephrology and Dialysis, Hospital of Vimercate, 20059 Milan, Italy; Fax: 39-45-8098-180Search for more papers by this authorMietta Meroni, Mietta Meroni Unit of Nephrology and Dialysis, Hospital of Vimercate, 20059 Milan, Italy; Fax: 39-45-8098-180Search for more papers by this authorAdalberto Sessa, Adalberto Sessa Unit of Nephrology and Dialysis, Hospital of Vimercate, 20059 Milan, Italy; Fax: 39-45-8098-180Search for more papers by this authorSalvatore Schiavano, Salvatore Schiavano Unit of Nephrology, 73042 Casarano, Lecce, Italy; Fax: 39-45-8098-180Search for more papers by this authorPier Franco Pignatti, Pier Franco Pignatti Institute of Biological Sciences and Genetics, University of Verona School of Medicine, University Hospital Polyclinic, 37134 Verona, Italy; Fax: 39-45-8098-180Search for more papers by this authorAlberto E. Turco, Corresponding Author Alberto E. Turco Institute of Biological Sciences and Genetics, University of Verona School of Medicine, University Hospital Polyclinic, 37134 Verona, Italy; Fax: 39-45-8098-180Institute of Biological Sciences and Genetics, University of Verona School of Medicine, University Hospital Polyclinic, 37134 Verona, Italy; Fax: 39-45-8098-180Search for more papers by this author Bernard Peissel, Bernard Peissel Institute of Biological Sciences and Genetics, University of Verona School of Medicine, University Hospital Polyclinic, 37134 Verona, Italy; Fax: 39-45-8098-180Search for more papers by this authorSandro Rossetti, Sandro Rossetti Institute of Biological Sciences and Genetics, University of Verona School of Medicine, University Hospital Polyclinic, 37134 Verona, Italy; Fax: 39-45-8098-180Search for more papers by this authorAlessandra Renieri, Alessandra Renieri Department of Molecular Biology and Medical Genetics, University of Siena, 53100 Siena, Italy; Fax: 39-45-8098-180Search for more papers by this authorLucia Galli, Lucia Galli Department of Molecular Biology and Medical Genetics, University of Siena, 53100 Siena, Italy; Fax: 39-45-8098-180Search for more papers by this authorMario De Marchi, Mario De Marchi Department of Clinical and Biological Sciences, University of Turin, 10043 Orbassano, Italy; Fax: 39-45-8098-180Search for more papers by this authorGraziana Battini, Graziana Battini Unit of Nephrology and Dialysis, Hospital of Vimercate, 20059 Milan, Italy; Fax: 39-45-8098-180Search for more papers by this authorMietta Meroni, Mietta Meroni Unit of Nephrology and Dialysis, Hospital of Vimercate, 20059 Milan, Italy; Fax: 39-45-8098-180Search for more papers by this authorAdalberto Sessa, Adalberto Sessa Unit of Nephrology and Dialysis, Hospital of Vimercate, 20059 Milan, Italy; Fax: 39-45-8098-180Search for more papers by this authorSalvatore Schiavano, Salvatore Schiavano Unit of Nephrology, 73042 Casarano, Lecce, Italy; Fax: 39-45-8098-180Search for more papers by this authorPier Franco Pignatti, Pier Franco Pignatti Institute of Biological Sciences and Genetics, University of Verona School of Medicine, University Hospital Polyclinic, 37134 Verona, Italy; Fax: 39-45-8098-180Search for more papers by this authorAlberto E. Turco, Corresponding Author Alberto E. Turco Institute of Biological Sciences and Genetics, University of Verona School of Medicine, University Hospital Polyclinic, 37134 Verona, Italy; Fax: 39-45-8098-180Institute of Biological Sciences and Genetics, University of Verona School of Medicine, University Hospital Polyclinic, 37134 Verona, Italy; Fax: 39-45-8098-180Search for more papers by this author First published: 1994 https://doi.org/10.1002/humu.1380030410Citations: 7AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. 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