Molecular genetic characterization of ataxic movement disorders in mouse and human
Deletion at ITPR1 underlies a young onset autosomal recessive ataxia in mice and a late onset autosomal dominant ataxia (SCA15) in humans. Data presented show the utility of investigating spontaneous mouse mutations in understanding human disease. Through linkage and sequence analysis a novel mutati...
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University College London (University of London)
2009
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.564634 |