PMID: 12921988

Kolovou G, Anagnostopoulou K, Cokkinos DV
A new ABCA1 mutation associated with low HDL cholesterol but without coronary artery disease.
Atherosclerosis. 2003 Aug;169(2):345-6; author reply 347-8., [PubMed]
Sentences
No. Mutations Sentence Comment
0 ABCA1 p.Pro85Leu
X
ABCA1 p.Pro85Leu 12921988:0:208
status: NEW
view ABCA1 p.Pro85Leu details
 Letter to the Editor A new ABCA1 mutation associated with low HDL cholesterol but without coronary artery disease We have read with great interest the paper of Seung Ho Hong and associates [1] describing the P85L variant, or ABCA1Alabama , in the ATP-binding cassette transporter (ABCA1) gene, and would like to add some comments and observations that may be of interest. Login to comment 15 ABCA1 p.Pro85Leu
X
ABCA1 p.Pro85Leu 12921988:15:142
status: NEW
view ABCA1 p.Pro85Leu details
 Although our patient as well as her parents have a truncated ABCA1 transcript, they have no clinical signs of CAD, while the patient with the P85L variation produces a full length and possibly functional protein, and developed premature CAD which led him to coronary artery bypass grafting at the age of 48 years old. Login to comment