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PMID: 16116948
Li Y, Bi H, Wu F, Zong Y, Wang Y, Qu S
Effects of oxidized low density lipoprotein on the expression and function of ABCA1 in macrophages.
J Huazhong Univ Sci Technolog Med Sci. 2005;25(2):113-6.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
102
ABCA1 p.Gln597Arg
X
ABCA1 p.Gln597Arg 16116948:102:84
status:
NEW
view ABCA1 p.Gln597Arg details
ABCA1 p.Arg587Trp
X
ABCA1 p.Arg587Trp 16116948:102:74
status:
NEW
view ABCA1 p.Arg587Trp details
The gene examination of Tangier patients showed that the gene mutation of
R587W
and
Q597R
could result in the localized dysfunction of ABCA1, accumulation of cholesterol in macrophages, and the occurrence of AS.
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