Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. [electronic resource]
Producer: 20000501Description: 1703-10 p. digitalISSN:- 0021-972X
- Amino Acid Sequence
- Animals
- Aquaporin 2
- Aquaporin 6
- Aquaporins -- genetics
- Arginine Vasopressin -- metabolism
- COS Cells
- Child
- Child, Preschool
- DNA Mutational Analysis
- Deoxyribonucleases, Type II Site-Specific -- metabolism
- Diabetes Insipidus, Nephrogenic -- genetics
- Female
- Genetic Linkage
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Mutation, Missense
- Pedigree
- Polymerase Chain Reaction
- Receptors, Vasopressin -- chemistry
- Sequence Alignment
- Transfection
- X Chromosome
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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