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PMID: 21157969
Dikkers A, Tietge UJ
Biliary cholesterol secretion: more than a simple ABC.
World J Gastroenterol. 2010 Dec 21;16(47):5936-45., 2010-12-21
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
127
ABCG5 p.Arg50Cys
X
ABCG5 p.Arg50Cys 21157969:127:91
status:
VERIFIED
view ABCG5 p.Arg50Cys details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 21157969:127:106
status:
NEW
view ABCG8 p.Asp19His details
With relevance to gallstone disease, recently specific mutations in ABCG5/G8, namely ABCG5
R50C
and ABCG8
D19H
, have been identified in humans and shown to increase the risk for cholesterol gallstone disease[81-83] .
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