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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- Publisher copy:
- 10.1373/clinchem.2009.129759
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Bibliographic Details
- Journal:
- Clinical chemistry
- Volume:
- 55
- Issue:
- 12
- Pages:
- 2153-2161
- Publication date:
- 2009-12-01
- DOI:
- EISSN:
-
1530-8561
- ISSN:
-
0009-9147
- Source identifiers:
-
94897
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:94897
- UUID:
-
uuid:a3bd4997-7270-4d3a-82dd-f6079fefa432
- Local pid:
- pubs:94897
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2009
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