Article
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 - 1 Jul 2013
Futema Marta, Whittall Ros A, Kiley Amy, Steel Louisa K, Cooper Jackie A, Badmus Ebele, Leigh Sarah E, Karpe Fredrik, Neil H Andrew W, Humphries Steve E
Abstract excerpt
AIM: To determine the frequency and spectrum of mutations causing Familial Hypercholesterolaemia (FH) in patients attending a single UK specialist hospital lipid clinic in Oxford and to identify characteristics contributing to a high mutation detection rate. METHODS: 289 patients (272 probands) were screened sequentially over a 2-year period for mutations in LDLR, APOB and PCSK9 using standard molecular genetic...
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