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 permeabilities. Genomic DNA analyses demonstrated that two individuals were homozygous for different nonsense mutations...
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