Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic
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Keywords
Cholesterol
Diagnostics
Familial hypercholesterolaemia
Genetic
Lipids
Mutations
Abbreviations
FH
familial hypercholesterolaemia
ARMS
amplification refractory mutation system
HRM
high resolution melting
MLPA
multiplex ligation probe-dependent amplification
TC
total cholesterol
TG
triglycerides
CHD
coronary heart disease
DLCN
Dutch Lipid Clinic Network
NGS
next generation sequencing
NICE
National Institute for Health and Clinical Excellence
DFH
definite FH
PFH
possible FH
UH
unclassified hypercholesterolaemia
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Copyright © 2013 The Authors. Published by Elsevier Ltd.