ABCMdb

PMID: 19667188

Kenny EE, Gusev A, Riegel K, Lutjohann D, Lowe JK, Salit J, Maller JB, Stoffel M, Daly MJ, Altshuler DM, Friedman JM, Breslow JL, Pe'er I, Sehayek E
Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae.
Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13886-91. Epub 2009 Aug 10., 2009-08-18 [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCG5 p.Asp450His Resequencing of ABCG5 in these carriers found a D450H missense mutation along the associated haplotype. These findings exemplify the power of haplotype analysis for mapping mutations in isolated populations and specifically for dissecting effects of multiple variants of the same locus. Login to comment 42 ABCG5 p.Asp450His Sequencing of the ABCG5/ABCG8 genes in carriers of the 526-kb haplotype revealed an ABCG5 D450H missense mutation, a plausible putative causal variant in this haplotype. These findings exemplify the power of haplotype analysis in resolving the effect of multiple variants of the same locus. Login to comment 108 ABCG5 p.Asp450His As shown in Fig. S3, this effort revealed an ABCG5 exon 10 missense mutation resulting in a coding change from negatively charged aspartic acid to positively charged histidine at residue 450 (D450H). Login to comment