Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

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...

全面介绍

书目详细资料
Main Authors: Futema, M, Whittall, R, Kiley, A, Steel, L, Cooper, J, Badmus, E, Leigh, SE, Karpe, F, Neil, H, Humphries, SE
格式: Journal article
语言:English
出版: 2013