- Functional characterization of two low-density lipoprotein receptor gene mutations in two chinese patients with familial hypercholesterolemiaHaihong Wang
Department of Atherosclerosis, Beijing Institute of Heart Lung and Blood Vessel Disease, Beijing Anzhen Hospital Affiliated with Capital Medical University, Beijing, China
PLoS ONE 9:e92703. 2014..We investigated two unrelated Chinese FH patients using gene screening and functional analysis to reveal the pathogenicity and the mechanism by which these mutations cause FH...
- Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patientsL Wang
Department of Atherosclerosis, Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing Anzhen Hospital, Affiliated of Capital University of Medical Sciences, Beijing 100029, PR China
Nutr Metab Cardiovasc Dis 19:391-400. 2009..In this article, from four homozygous FH phenotype probands we identified disease causing mutations and analyzed the relationship between genotype and phenotype...