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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_US
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_US
dc.language.isoen_USen_US
dc.publisherAmerican Association for the Advancement of Scienceen_US
dc.subjectIon Channels/geneticsen_US
dc.subjectAquaporinsen_US
dc.titleMutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channelsen_US
dc.typeArticleen_US


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