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Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1067-1073 [Peer Reviewed Journal]

Copyright Nature Publishing Group Oct 2013 ;Copyright © 2013 Macmillan Publishers Limited 2013 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2013.3 ;PMID: 23386035

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