ABCA1 p.Lys531Asn
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PMID: 25904599
[PubMed]
Zhang H et al: "Functional analysis and transcriptomic profiling of iPSC-derived macrophages and their application in modeling Mendelian disease."
No.
Sentence
Comment
127
We recruited 2 TD individuals, TD-1, compound heterozygote at S2046R/K531N, and TD-2, homozygous for the E1005X/E1005X truncation mutation.
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ABCA1 p.Lys531Asn 25904599:127:69
status: NEW128 The sibling of TD-1, heterozygous at K531N (hetero-1), was recruited as a family comparator.Age, race, and sex-matched healthy subjects, control-1 for TD-1, and control-2 for TD-2 were also recruited.
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ABCA1 p.Lys531Asn 25904599:128:37
status: NEW