LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance

di Snozek, Christine LH, Lagerstedt, Susan A, Khoo, Teck K, Rubenfire, Melvyn, Isley, William L, Train, Laura J, Baudhuin, Linnea M
Pubblicazione 2009

Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized C...

di Ji, Yuan, Skierka, Jennifer M., Blommel, Joseph H., Moore, Brenda E., VanCuyk, Douglas L., Bruflat, Jamie K., Peterson, Lisa M., Veldhuizen, Tamra L., Fadra, Numrah, Peterson, Sandra E., Lagerstedt, Susan A., Train, Laura J., Baudhuin, Linnea M., Klee, Eric W., Ferber, Matthew J., Bielinski, Suzette J., Caraballo, Pedro J., Weinshilboum, Richard M., Black, John L.
Pubblicato in J Mol Diagn (2016)