Article
Functional analysis of aquaporin-1 deficient red cells. The Colton-null phenotype.
The Journal of biological chemistry - 19 Jan 1996
Mathai J C, Mori S, Smith B L, Preston G M, Mohandas N, Collins M, van Zijl P C, Zeidel M L, Agre P
Abstract excerpt
The aquaporin-1 (AQP1) water transport protein contains a polymorphism corresponding to the Colton red blood cell antigens. To define the fraction of membrane water permeability mediated by AQP1, red cells were obtained from human kindreds with the rare Colton-null phenotype. Homozygosity or heterozygosity for deletion of exon I in AQP1 correlated with total or partial deficiency of AQP1 protein. Homozygote red...
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