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Targeted Genetic Testing for Familial Hypercholesterolaemia Using Next Generation Sequencing: a Population-Based Study

Penny J Norsworthy,Jana Vandrovcova,Ellen RA Thomas,Archie Campbell,Shona M Kerr,Jennifer Biggs,Laurence Game,Anne K Soutar,Blair H Smith,Anna F Dominiczak,David J Porteous,Andrew D Morris,Generation Scotland,Timothy J Aitman

BMC Medical Genetics（2014）

Cited 63|Views40
Key words
Familial hypercholesterolaemia,Total cholesterol,LDLR,Molecular diagnostic testing,Next-generation sequencing,Primary care,Generation Scotland
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