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Journal article

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

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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Publication status:
Published

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Authors


Humphries, SE More by this author
Whittall, RA More by this author
Troutt, JS More by this author
Konrad, RJ More by this author
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Journal:
Clinical chemistry
Volume:
55
Issue:
12
Pages:
2153-2161
Publication date:
2009-12-05
DOI:
EISSN:
1530-8561
ISSN:
0009-9147
URN:
uuid:a3bd4997-7270-4d3a-82dd-f6079fefa432
Source identifiers:
94897
Local pid:
pubs:94897

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