Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. [electronic resource]
Producer: 20030211Description: 2267-77 p. digitalISSN:- 1046-6673
- Amino Acid Sequence
- Animals
- Aquaporin 2
- Aquaporin 6
- Aquaporins -- chemistry
- Cell Line
- Cell Membrane -- metabolism
- Diabetes Insipidus, Nephrogenic -- genetics
- Family Health
- Female
- Genes, Recessive
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation, Missense
- Oocytes -- metabolism
- Pedigree
- Protein Structure, Tertiary
- Protein Transport -- genetics
- Water -- metabolism
- Xenopus
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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