Disease-associated balanced chromosomal rearrangements : molecular characterisation of two cases, with a review of the impact of published cases in human genetic research
Disease associated balanced chromosomal rearrangements (DBCRs) are large-scale alterations in normal genomic sequence, which occur without copy number change in a phenotypically abnormal individual. Complete ascertainment of published DBCRs was attempted via recursive searches of the literature. 775...
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University of Edinburgh
2006
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.652107 |