A novel mutation in SLC4A1 causing distal renal tubular acidosis : an investigation of the AE1 C-terminal domain
This research identifies a novel AE1 mutation in a newly-referred family where dRTA segregates with disease through a four-generation pedigree, as determined by DNA sequencing and specific restriction enzyme digestion. This mutation – AE1-M909T – lies within the last four residues of the tail, in a...
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University of Cambridge
2011
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.599245 |