A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family

Journal Article A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family Get access Alberto E. Turco, Alberto E. Turco * *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Sandro Rossetti, Sandro Rossetti Search for other works by this author on: Oxford Academic PubMed Google Scholar Elena Bresin, Elena Bresin Search for other works by this author on: Oxford Academic PubMed Google Scholar Stefano Corra, Stefano Corra Search for other works by this author on: Oxford Academic PubMed Google Scholar Linda Gammaro, Linda Gammaro 1Division of Medical Nephrology, The University of Verona School of Medicine37134 Verona, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Giuseppe Maschio, Giuseppe Maschio 1Division of Medical Nephrology, The University of Verona School of Medicine37134 Verona, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Pier Franco Pignatti Pier Franco Pignatti Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 4, Issue 8, August 1995, Pages 1331–1335, https://doi.org/10.1093/hmg/4.8.1331 Published: 01 August 1995 Article history Received: 13 February 1995 Revision received: 25 April 1995 Accepted: 25 April 1995 Published: 01 August 1995