Turco, A E

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