PMID: 24891332

Singaraja RR, Tietjen I, Hovingh GK, Franchini PL, Radomski C, Wong K, vanHeek M, Stylianou IM, Lin L, Wang L, Mitnaul L, Hubbard B, Winther M, Mattice M, Legendre A, Sherrington R, Kastelein JJ, Akinsanya K, Plump A, Hayden MR
Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.
J Lipid Res. 2014 Jun 2;55(8):1693-1701., [PubMed]
Sentences
No. Mutations Sentence Comment
128 ABCA1 p.Val2091Ile
X
ABCA1 p.Val2091Ile 24891332:128:90
status: NEW
view ABCA1 p.Val2091Ile details
 LIPG N396S and SCARB1 S112F mutations may be suppressed by ABCA1 mutations IVS24+1G>C and V2091I, respectively (9, 28). Login to comment