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Rare protein-truncating variants in APOB, lower low-density lipoprotein cholesterol, and protection against coronary heart disease

Abstract:

BACKGROUND:Familial hypobetalipoproteinemia (FHBL) is a genetic disorder caused by rare protein-truncating variants (PTV) in the gene encoding apolipoprotein B ( APOB), the major protein component of low-density and triglyceride-rich lipoprotein particles. Whether heterozygous APOB deficiency is associated with decreased risk for coronary heart disease (CHD) is uncertain. We combined family-based and large scale gene-sequencing to characterize the association of rare PTVs in APOB with circula...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1161/circgen.118.002376

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Publisher:
Wolters Kluwer Health Publisher's website
Journal:
Circulation: Genomic and Precision Medicine Journal website
Volume:
12
Issue:
5
Article number:
e002376
Publication date:
2019-04-02
Acceptance date:
2019-03-22
DOI:
EISSN:
2574-8300
Pmid:
30939045
Source identifiers:
991216
Language:
English
Keywords:
Pubs id:
pubs:991216
UUID:
uuid:e8622902-dcf7-4752-8b56-409742b19800
Local pid:
pubs:991216
Deposit date:
2019-06-05

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