TY  - GEN
AU  - Rossetti,S
AU  - Bresin,E
AU  - Restagno,G
AU  - Carbonara,A
AU  - Corrà,S
AU  - De Prisco,O
AU  - Pignatti,P F
AU  - Turco,A E
TI  - Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene
SN  - 0148-7299
PY  - 1997///0219
KW  - Adolescent
KW  - Adult
KW  - Codon, Terminator
KW  - Female
KW  - Genetic Linkage
KW  - Genetic Markers
KW  - Humans
KW  - Italy
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Nucleic Acid Heteroduplexes
KW  - Pedigree
KW  - Polycystic Kidney, Autosomal Dominant
KW  - etiology
KW  - Polymerase Chain Reaction
KW  - Proteins
KW  - genetics
KW  - Restriction Mapping
KW  - Sequence Analysis, DNA
KW  - TRPP Cation Channels
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/(SICI)1096-8628(19961016)65:2<155::AID-AJMG15>3.0.CO;2-P
ER  -