Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus. [electronic resource]
- American journal of human genetics Oct 2001
- 738-48 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0002-9297
10.1086/323643 doi
Amino Acid Sequence Animals Aquaporin 2 Aquaporin 6 Aquaporins--chemistry Base Sequence Blotting, Western Cell Membrane--metabolism Cell Membrane Permeability Child, Preschool DNA Mutational Analysis Diabetes Insipidus, Nephrogenic--genetics Female Genes, Dominant--genetics Humans Infant Japan Male Molecular Sequence Data Mutation--genetics Oocytes--metabolism Pedigree Protein Structure, Quaternary Saccharomyces cerevisiae--genetics Xenopus laevis