PMID: 21437027

Izar MC, Tegani DM, Kasmas SH, Fonseca FA
Phytosterols and phytosterolemia: gene-diet interactions.
Genes Nutr. 2011 Feb;6(1):17-26. Epub 2010 Aug 28., [PubMed]
Sentences
No. Mutations Sentence Comment
111 ABCG8 p.Gly574Arg
X
ABCG8 p.Gly574Arg 21437027:111:40
status: NEW
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The presence of the homozygous mutation Gly574Arg in the ABCG8 gene has been found previously in the Amish-Mennonite patients where a founder effect has been reported [73]. Login to comment
113 ABCG8 p.Gly574Arg
X
ABCG8 p.Gly574Arg 21437027:113:40
status: NEW
view ABCG8 p.Gly574Arg details
The presence of the homozygous mutation Gly574Arg in the ABCG8 gene has been found previously in the Amish-Mennonite patients where a founder effect has been reported [73]. Login to comment
127 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 21437027:127:24
status: VERIFIED
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 21437027:127:52
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 21437027:127:72
status: NEW
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 21437027:127:134
status: NEW
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ABCG8 p.Tyr54Cys
X
ABCG8 p.Tyr54Cys 21437027:127:62
status: NEW
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Missense polymorphisms (Gln604Glu in the ABCG5, and Asp19His, Tyr54Cys, Thr400Lys, and Ala632Val in the ABCG8) were examined, and the Thr400Lys in the ABCG8 gene was associated with changes in lipid levels in response to reduced dietary animal fat and cholesterol intake. Login to comment
129 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 21437027:129:24
status: NEW
view ABCG5 p.Gln604Glu details
ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 21437027:129:52
status: NEW
view ABCG8 p.Asp19His details
ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 21437027:129:72
status: NEW
view ABCG8 p.Thr400Lys details
ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 21437027:129:134
status: NEW
view ABCG8 p.Thr400Lys details
ABCG8 p.Tyr54Cys
X
ABCG8 p.Tyr54Cys 21437027:129:62
status: NEW
view ABCG8 p.Tyr54Cys details
Missense polymorphisms (Gln604Glu in the ABCG5, and Asp19His, Tyr54Cys, Thr400Lys, and Ala632Val in the ABCG8) were examined, and the Thr400Lys in the ABCG8 gene was associated with changes in lipid levels in response to reduced dietary animal fat and cholesterol intake. Login to comment