Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.

Humphries, SE; Neely, RD; Whittall, RA; Troutt, JS; Konrad, RJ; Scartezini, M; Li, KW; Cooper, JA; Acharya, J; Neil, A

Abstract:

BACKGROUND: We measured plasma PCSK9 concentrations in healthy men with a PCSK9 (proprotein convertase subtilisin/kexin type 9) loss-of-function variant (p.R46L), in statin-treated patients with a clinical diagnosis of familial hypercholesterolemia (FH) and carrying a PCSK9 gain-of-function mutation (p.D374Y), and in statin-treated patients with FH due to different genetic causes. METHODS: PCSK9 was measured with a previously described ELISA. RESULTS: In 81 healthy middle-aged Caucasian men, ...

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APA Style

Humphries, S. E., Neely, R. D., Whittall, R. A., Troutt, J. S., Konrad, R. J., Scartezini, M., Li, K. W., Cooper, J. A., Acharya, J., & Neil, A. (2009). Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9. Clinical Chemistry, 55(12), 2153–2161.

MLA Style

Humphries, S. E., et al. “Healthy Individuals Carrying the PCSK9 P.R46L Variant and Familial Hypercholesterolemia Patients Carrying PCSK9 P.D374Y Exhibit Lower Plasma Concentrations of PCSK9.” Clinical Chemistry, vol. 55, no. 12, Clinical chemistry, 2009, pp. 2153–61.

Chicago Style

Humphries, SE, RD Neely, RA Whittall, JS Troutt, RJ Konrad, M Scartezini, KW Li, JA Cooper, J Acharya, and A Neil. 2009. “Healthy Individuals Carrying the PCSK9 P.R46L Variant and Familial Hypercholesterolemia Patients Carrying PCSK9 P.D374Y Exhibit Lower Plasma Concentrations of PCSK9.” Clinical Chemistry 55 (12): 2153–61.
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