PMID: 12446833

Sehayek E, Duncan EM, Lutjohann D, Von Bergmann K, Ono JG, Batta AK, Salen G, Breslow JL
Loci on chromosomes 14 and 2, distinct from ABCG5/ABCG8, regulate plasma plant sterol levels in a C57BL/6J x CASA/Rk intercross.
Proc Natl Acad Sci U S A. 2002 Dec 10;99(25):16215-9. Epub 2002 Nov 22., 2002-12-10 [PubMed]
Sentences
No. Mutations Sentence Comment
159 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 12446833:159:6
status: NEW
view ABCG8 p.Asp19His details
ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 12446833:159:96
status: NEW
view ABCG8 p.Thr400Lys details
 ABCG8 D19H in 10% of the population had a 31% lower genotypic mean campesterol level, and ABCG8 T400K in 36% of the population had a 2% lower genotypic mean. Login to comment