PMID: 15767853

Hovingh GK, de Groot E, van der Steeg W, Boekholdt SM, Hutten BA, Kuivenhoven JA, Kastelein JJ
Inherited disorders of HDL metabolism and atherosclerosis.
Curr Opin Lipidol. 2005 Apr;16(2):139-45., [PubMed]
Sentences
No. Mutations Sentence Comment
82 ABCA1 p.Trp590Leu
X
ABCA1 p.Trp590Leu 15767853:82:92
status: NEW
view ABCA1 p.Trp590Leu details
In contrast, no effects on carotid IMT were observed in carriers of another ABCA1 mutation (W590L) [37]. Login to comment
85 ABCA1 p.Trp590Leu
X
ABCA1 p.Trp590Leu 15767853:85:147
status: NEW
view ABCA1 p.Trp590Leu details
In addition, HDL-c levels were below 1.0 mmol/l in three of the five ABCA1 mutation carriers and in two of the 10 noncarriers, indicating that the W590L mutation suffers from low penetrance. Login to comment