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PMID: 24657684
Hancock-Cerutti W, Rader DJ
Opposing effects of ABCG5/8 function on myocardial infarction and gallstone disease.
J Am Coll Cardiol. 2014 May 27;63(20):2129-30. doi: 10.1016/j.jacc.2014.02.553. Epub 2014 Mar 19.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
20
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 24657684:20:43
status:
NEW
view ABCG8 p.Asp19His details
The best studied of the 6 variants was the
D19H
variant in ABCG8, a known gain-of-function variant that had previously been shown to be a monogenic determinant of gallstone disease risk (25,26).
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21
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 24657684:21:144
status:
NEW
view ABCG8 p.Asp19His details
Importantly, the relationship of genotype score to MI and gallstone disease persisted when a genotype score was calculated independently of the
D19H
See page 2121 *Editorials published in the Journal of the American College of Cardiology reflect the views of the authors and do not necessarily represent the views of JACC or the American College of Cardiology.
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