Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. [electronic resource]
Producer: 20011204Description: 677-84 p. digitalISSN:- 1018-4813
- Amino Acid Sequence
- Base Sequence
- Cohort Studies
- DNA -- chemistry
- DNA Mutational Analysis
- Family Health
- Female
- Genetic Variation
- Humans
- Male
- Mutation, Missense
- Pedigree
- Polycystic Kidney, Autosomal Dominant -- genetics
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Proteins -- genetics
- Sequence Deletion
- Sequence Homology, Amino Acid
- Sequence Homology, Nucleic Acid
- TRPP Cation Channels
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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