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. [electronic resource]
- Human molecular genetics Aug 1995
- 1331-5 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0964-6906
10.1093/hmg/4.8.1331 doi
Adult Aged Base Sequence Cloning, Molecular Codon, Nonsense--genetics DNA Primers--genetics Female Humans Italy Male Middle Aged Molecular Sequence Data Pedigree Point Mutation Polycystic Kidney, Autosomal Dominant--genetics Polymerase Chain Reaction RNA, Messenger--genetics