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dc.contributor.authorAgre, Peter
dc.contributor.authorMoulds, JJ
dc.contributor.authorZeidel, ML
dc.contributor.authorSmith, BL
dc.contributor.authorPreston, GM
dc.date.accessioned2010-05-13T17:53:23Z
dc.date.available2010-05-13T17:53:23Z
dc.date.issued1994-09-09
dc.identifier.citationScience 9 September 1994: Vol. 265. no. 5178, pp. 1585 - 1587 DOI: 10.1126/science.7521540en
dc.identifier.urihttp://jhir.library.jhu.edu/handle/1774.2/34113
dc.description.abstractThe 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 (exon deletion or frameshift), and the third had a missense mutation encoding a nonfunctioning CHIP molecule. Surprisingly, none of the three suffers any apparent clinical consequence, which raises questions about the physiological importance of CHIP and implies that other mechanisms may compensate for its absence.en
dc.language.isoen_USen
dc.publisherAmerican Association for the Advancement of Scienceen
dc.subjectIon Channels/geneticsen
dc.subjectAquaporinsen
dc.titleMutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channelsen
dc.typeArticleen


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