ABCA1 p.Ser824Leu
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PMID: 23136402
[PubMed]
Bochem AE et al: "ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden."
No.
Sentence
Comment
69
Subjects were carriers of the following mutations: c.6401+2T.C, p.Ser930Phe, p.Ser824Leu, p.Arg587Trp, p.Thr929Ile, p.Asn935Ser, c.3535+1G.C, p.Asp571Gly, p.Asn1800his, p.Leu1056Pro, p.Gln1038Ter, c.1195-1G.C, p.Arg579Gln, and p.Phe1760Valfs*21.
X
ABCA1 p.Ser824Leu 23136402:69:79
status: NEW79 The efflux capacity of the remaining nine mutations: p.Asn935Ser, c.3535+1G.C, p.Ser824Leu, p.Ser930Phe, p.Gln1038Ter, c.1195-1G.C, c.6401+2T.C, p.Asp571Gly, and p.Arg579Gln are listed in Figure 1.
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ABCA1 p.Ser824Leu 23136402:79:81
status: NEW
PMID: 26109739
[PubMed]
Bochem AE et al: "Increased Systemic and Plaque Inflammation in ABCA1 Mutation Carriers With Attenuation by Statins."
No.
Sentence
Comment
28
Homozygous and compoundheterozygoussubjectshadTangierDisease.Subjects were carriers of the following mutations: p.Leu1056Pro, c.3535+1G>C, c.6401+2T>C, p.Asn1800his, p.Ser930Phe, p.Phe1760Valfs*21, p.Ser824Leu, p.Gln1038Ter, p.Thr929Ile, p.Arg587Trp, p.Asn935Ser, and p.Arg579Gln.
X
ABCA1 p.Ser824Leu 26109739:28:200
status: NEW