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. [electronic resource]
Producer: 19970219Description: 155-9 p. digitalISSN:- 0148-7299
- Adolescent
- Adult
- Codon, Terminator
- Female
- Genetic Linkage
- Genetic Markers
- Humans
- Italy
- Male
- Middle Aged
- Mutation
- Nucleic Acid Heteroduplexes
- Pedigree
- Polycystic Kidney, Autosomal Dominant -- etiology
- Polymerase Chain Reaction
- Proteins -- genetics
- Restriction Mapping
- Sequence Analysis, DNA
- TRPP Cation Channels
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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