Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study

Penny J. Norsworthy(Imperial College London), Timothy J. Aitman(Institute of Genetics and Cancer), Archie Campbell(Vanderbilt University), Generation Scotland(University of Dundee), Jana Vandrovcová(Texas Tech University), Andrew D. Morris(Health Data Research UK), Jennifer Biggs(Imperial College London), David J. Porteous(Western General Hospital), Blair H. Smith(University of Dundee), Laurence Gamé(Hammersmith Hospital), Ellen Thomas(Guy's and St Thomas' NHS Foundation Trust), Shona M. Kerr(Institute of Genetics and Cancer), Anne K. Soutar(Hammersmith Hospital), Anna F. Dominiczak(University of Glasgow)
BMC Medical Genetics
June 23, 2014
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