Article
Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels.
Science (New York, N.Y.) - 9 Sept 1994
Preston G M, Smith B L, Zeidel M L, Moulds J J, Agre P
Abstract excerpt
The gene aquaporin-1 encodes channel-forming integral protein (CHIP), a member of a large family of water transporters found throughout nature. Three rare individuals were identified who do not express CHIP-associated Colton blood group antigens and whose red cells exhibit low osmotic water perme...
Topics
- Animals
- Aquaporin 1
- Aquaporins
- Base Sequence
- Blood Group Antigens
- Cell Membrane Permeability
- Erythrocyte Membrane
- Exons
- Female
- Homozygote
- Humans
- Ion Channels
- Kidney Tubules
- Molecular Sequence Data
- Mutation
- Oocytes
- Phenotype
- Polymerase Chain Reaction