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Journal article

Heterozygous ABCG5 gene deficiency and risk of coronary artery disease

Abstract:

Background:
Familial sitosterolemia is a rare Mendelian disorder characterized by hyperabsorption and decreased biliary excretion of dietary sterols. Affected individuals typically have complete genetic deficiency—homozygous loss-of-function (LoF) variants—in the ABCG5 or ABCG8 genes and have substantially elevated plasma sitosterol and LDL (low-density lipoprotein) cholesterol (LDL-C) levels. The impact of partial genetic deficiency of ABCG5 or ABCG8—as occurs in he...

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Publication status:
Published
Peer review status:
Peer reviewed

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Files:
Publisher copy:
10.1161/circgen.119.002871

Authors


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Role:
Author
ORCID:
0000-0001-6647-8240
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Role:
Author
ORCID:
0000-0002-2385-8259
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Role:
Author
ORCID:
0000-0001-8402-7435
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Publisher:
American Heart Association Publisher's website
Journal:
Circulation: Genomic and Precision Medicine Journal website
Volume:
13
Issue:
5
Pages:
417-423
Publication date:
2020-08-30
Acceptance date:
2020-05-26
DOI:
EISSN:
2574-8300
Pmid:
32862661
Language:
English
Keywords:
Pubs id:
1130062
Local pid:
pubs:1130062
Deposit date:
2020-11-25

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