TY  - GEN
AU  - Turco,A E
AU  - Rossetti,S
AU  - Bresin,E
AU  - Corra,S
AU  - Gammaro,L
AU  - Maschio,G
AU  - Pignatti,P F
TI  - 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
SN  - 0964-6906
PY  - 1995///1215
KW  - Adult
KW  - Aged
KW  - Base Sequence
KW  - Cloning, Molecular
KW  - Codon, Nonsense
KW  - genetics
KW  - DNA Primers
KW  - Female
KW  - Humans
KW  - Italy
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Pedigree
KW  - Point Mutation
KW  - Polycystic Kidney, Autosomal Dominant
KW  - Polymerase Chain Reaction
KW  - RNA, Messenger
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/4.8.1331
ER  -