PMID: 12241726

Bradbury J
Mutation affecting arterial elasticity associated with premature heart disease.
Lancet. 2002 Aug 10;360(9331):468., 2002-08-10 [PubMed]
Sentences
No. Mutations Sentence Comment
8 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 12241726:8:182
status: NEW
view ABCC6 p.Arg1141* details
 To find out, Trip and co-workers examined DNA samples from 441 patients younger than 50 years referred to an outpatient atherosclerosis clinic and from 1057 healthy controls for the R1141X mutation, "the most common ABCC6 mutation associated with PXE in the Netherlands", explains Trip. Login to comment 9 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 12241726:9:153
status: NEW
view ABCC6 p.Arg1141* details
 3·2% of patients had this mutation compared with only 0·8% of healthy controls, giving an odds ratio for coronary events among people with the R1141X mutation of 4·23 (95% CI 1·76-10·20; Circulation; published online Aug 5, 2002; DOI: 10.1161/01.CIR.0000028420.27813 .C0). Login to comment 10 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 12241726:10:131
status: NEW
view ABCC6 p.Arg1141* details
 "We are now looking at other mutations associated with PXE in the same population", says Trip, "and plan to extend our work on the R1141X mutation to other populations". Login to comment