PMID: 19606474

Reynolds CA, Hong MG, Eriksson UK, Blennow K, Bennet AM, Johansson B, Malmberg B, Berg S, Wiklund F, Gatz M, Pedersen NL, Prince JA
A survey of ABCA1 sequence variation confirms association with dementia.
Hum Mutat. 2009 Sep;30(9):1348-54., [PubMed]
Sentences
No. Mutations Sentence Comment
120 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 19606474:120:106
status: NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 19606474:120:63
status: NEW
view ABCA1 p.Arg219Lys details
From the outset, we were particularly interested in rs2230806 (R219K), rs2230808 (R1587K), and rs4149313 (I883M), becuase these are the only known common nonsynonymous variants (nsSNPs) in the region. Login to comment