PMID: 11809185

van Dam MJ, de Groot E, Clee SM, Hovingh GK, Roelants R, Brooks-Wilson A, Zwinderman AH, Smit AJ, Smelt AH, Groen AK, Hayden MR, Kastelein JJ
Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study.
Lancet. 2002 Jan 5;359(9300):37-42., [PubMed]
Sentences
No. Mutations Sentence Comment
52 ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 11809185:52:106
status: NEW
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ABCA1 p.Cys1477Arg
X
ABCA1 p.Cys1477Arg 11809185:52:107
status: NEW
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ABCA1 p.Met1091Thr
X
ABCA1 p.Met1091Thr 11809185:52:133
status: NEW
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ABCA1 p.Met1091Thr
X
ABCA1 p.Met1091Thr 11809185:52:135
status: NEW
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ABCA1 p.Thr929Ile
X
ABCA1 p.Thr929Ile 11809185:52:324
status: NEW
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ABCA1 p.Thr929Ile
X
ABCA1 p.Thr929Ile 11809185:52:328
status: NEW
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ABCA1 p.Pro2150Leu
X
ABCA1 p.Pro2150Leu 11809185:52:295
status: NEW
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ABCA1 p.Pro2150Leu
X
ABCA1 p.Pro2150Leu 11809185:52:298
status: NEW
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 The ABCA1 mutations in NL-014 and NL-016, which have been previously described, consist of 4369T→C (C1477R) and 3212T→C (M1091T), respectively.6,9 Mutation carriers from the two newly discovered families with familial hypoalphalipoproteinaemia NL-020 and NL-016 had a 6844C→T (P2150L) and a 3181C→;T (T929I) mutation in the ABCA1 gene respectively. Login to comment