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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].
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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.
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