Comprehensive biochemical analysis of rare prostacyclin receptor variants: study of association of signaling with coronary artery obstruction
J Stitham, E Arehart, L Elderon, SR Gleim… - Journal of biological …, 2011 - ASBMB
Currently, pharmacogenetic studies are at an impasse as the low prevalence (< 2%) of most
variants hinder their pharmacogenetic analysis with population sizes often inadequate for
sufficiently powered studies. Grouping rare mutations by functional phenotype rather than
mutation site can potentially increase sample size. Using human population-based studies
(n= 1,761) to search for dysfunctional human prostacyclin receptor (hIP) variants, we
recently discovered 18 non-synonymous mutations, all with frequencies less than 2% in our …
variants hinder their pharmacogenetic analysis with population sizes often inadequate for
sufficiently powered studies. Grouping rare mutations by functional phenotype rather than
mutation site can potentially increase sample size. Using human population-based studies
(n= 1,761) to search for dysfunctional human prostacyclin receptor (hIP) variants, we
recently discovered 18 non-synonymous mutations, all with frequencies less than 2% in our …
