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Letter

Nature Genetics 37, 1258–1263 (1 November 2005) | doi:10.1038/ng1656

Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1

Lesley J Bruce , Hannah C Robinson , H|[eacute]|l|[egrave]|ne Guizouarn , Franck Borgese , Penny Harrison , May-Jean King , Jeroen S Goede , Suzanne E Coles , Daniel M Gore , Hans U Lutz , Romina Ficarella , D Mark Layton , Achille Iolascon , J Clive Ellory & Gordon W Stewart

We identified 11 human pedigrees with dominantly inherited hemolytic anemias in both the hereditary stomatocytosis and spherocytosis classes. Affected individuals in these families had an increase in membrane permeability to Na and K that is particularly marked at 0 |[deg]|C.