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

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

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

द्वारा 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.
में प्रकाशित J Mol Diagn (2016)