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Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
Atherosclerosis. 2013 Jul;229(1):161-8. doi: 10.1016/j.atherosclerosis.2013.04.011. Epub 2013 Apr 18.
Atherosclerosis. 2013.
PMID: 23669246
Free PMC article.
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.
Futema M, Plagnol V, Whittall RA, Neil HA; Simon Broome Register Group; Humphries SE; UK10K.
Futema M, et al.
J Med Genet. 2012 Oct;49(10):644-9. doi: 10.1136/jmedgenet-2012-101189.
J Med Genet. 2012.
PMID: 23054246
Free PMC article.
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