Article
[A genetic and clinical study in a family with familial hypercholesterolemia].
Zhonghua nei ke za zhi - 1 Feb 2011
Lai Hong, Feng Jin-Bo, Wang Tong, Zhou Ke-Hua, Hou Wei-Kai, Chen Li
Abstract excerpt
OBJECTIVE: To investigate the low density lipoprotein receptor (LDLR) gene and apolipoprotein (Apo) B gene mutation in a Chinese family with familial hypercholesterolemia (FH) and give the kindreds clinical check-ups. METHODS: After physical examination, the kindreds underwent ECG and ultrasound checks. Blood samples were tested for lipid profiles. The promoter and all eighteen exons of LDLR gene were...
Topics
- Adolescent
- Adult
- Apolipoprotein B-100
- Exons
- Female
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Mutation
- Pedigree
- Phenotype
- Receptors, LDL
- Young Adult