Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.

Marr, Nannette

Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. [electronic resource] - Journal of the American Society of Nephrology : JASN Sep 2002 - 2267-77 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1046-6673

10.1097/01.asn.0000027355.41663.14 doi


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