Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction
系统性基于细胞的错义等位基因表型分析为稀有变异关联研究提供了助力:以 LDLR 与心肌梗死为例
期刊:PLoS Genetics
影响因子:
doi:10.1371/journal.pgen.1004855
Aenne S Thormaehlen, Christian Schuberth, Hong-Hee Won, Peter Blattmann, Brigitte Joggerst-Thomalla, Susanne Theiss, Rosanna Asselta, Stefano Duga, Pier Angelica Merlini, Diego Ardissino, Eric S Lander, Stacey Gabriel, Daniel J Rader, Gina M Peloso, Rainer Pepperkok, Sekar Kathiresan, Heiko Runz2