DEVELOPMENT OF AN AFFORDABLE, SENSITIVE AND RAPID SCREENING METHOD FOR MUTATION DETECTION IN UK FH SUBJECTS по Scartezini, M, Hubbart, C, Whittall, R, Neil, H, Humphrics, SE

The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in healthy U.K. men. по Scartezini, M, Hubbart, C, Whittall, R, Cooper, J, Neil, A, Humphries, SE

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients. по Whittall, R, Scartezini, M, Li, K, Hubbart, C, Reiner, Z, Abraha, A, Neil, H, Dedoussis, G, Humphries, SE

Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9. по Humphries, SE, Neely, R, Whittall, R, Troutt, J, Konrad, R, Scartezini, M, Li, K, Cooper, J, Acharya, J, Neil, A