ABCMdb

PMID: 20067955

Vergeer M, Brunham LR, Koetsveld J, Kruit JK, Verchere CB, Kastelein JJ, Hayden MR, Stroes ES
Carriers of loss-of-function mutations in ABCA1 display pancreatic beta-cell dysfunction.
Diabetes Care. 2010 Apr;33(4):869-74. Epub 2010 Jan 12., [PubMed]

Sentences

No. Mutations Sentence Comment

16 ABCA1 p.Arg230Cys In addition, the common ABCA1 polymorphism R230C was shown to be associated with a fourfold increase in the occurrence of diabetes in a Mexican population (6). Login to comment 17 ABCA1 p.Arg230Cys In addition, the common ABCA1 polymorphism R230C was shown to be associated with a fourfold increase in the occurrence of diabetes in a Mexican population (6). Login to comment 46 ABCA1 p.Cys1477Arg ABCA1 p.Met1091Thr ABCA1 p.Arg587Trp Subjects included in the present study were heterozygous carriers of the following extremely rare ABCA1 mutations: C1477R, M1091T, and R587W (4,7-10) and L996P and Q978X (C. Candini et al., manuscript in preparation). Login to comment 47 ABCA1 p.Cys1477Arg ABCA1 p.Met1091Thr ABCA1 p.Arg587Trp Subjects included in the present study were heterozygous carriers of the following extremely rare ABCA1 mutations: C1477R, M1091T, and R587W (4,7-10) and L996P and Q978X (C. Candini et al., manuscript in preparation). Login to comment 48 ABCA1 p.Cys1477Arg ABCA1 p.Met1091Thr ABCA1 p.Arg587Trp C1477R has been reported in nine heterozygous individuals, M1091T in four individuals, and R587W in seven individuals (11). Login to comment 49 ABCA1 p.Cys1477Arg ABCA1 p.Met1091Thr ABCA1 p.Arg587Trp C1477R has been reported in nine heterozygous individuals, M1091T in four individuals, and R587W in seven individuals (11). Login to comment 93 ABCA1 p.Cys1477Arg ABCA1 p.Met1091Thr ABCA1 p.Arg587Trp Carriers were recruited from five different families (four C1477R carriers, three M1091T carriers, three R587W carriers, four L996P carriers, and one Q978X carrier); family control subjects were siblings, cousins, or partners of a carrier. Login to comment 95 ABCA1 p.Cys1477Arg ABCA1 p.Met1091Thr ABCA1 p.Arg587Trp Carriers were recruited from five different families (four C1477R carriers, three M1091T carriers, three R587W carriers, four L996P carriers, and one Q978X carrier); family control subjects were siblings, cousins, or partners of a carrier. Login to comment 103 ABCA1 p.Cys1477Arg ABCA1 p.Met1091Thr This group consisted of four C1477R carriers, two M1091T carriers, one L996P carrier, one Q978X carrier, and eight control subjects. Login to comment 105 ABCA1 p.Cys1477Arg ABCA1 p.Met1091Thr This group consisted of four C1477R carriers, two M1091T carriers, one L996P carrier, one Q978X carrier, and eight control subjects. Login to comment