Kuwahara, M

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