Article
Genetic analysis in a compound heterozygote family with familial hypercholesterolemia.
Molecular medicine reports - 1 Jun 2018
Wang Fang, Fan Qin, Tao Rong, Gu Gang, Zhang Ruiyan, Xi Rui
Abstract excerpt
Homozygous familial hypercholesterolemia (FH) is rare, with an incidence of ~one in a million and commonly presents with a genetic mutation. The genetic variations of families with FH were clinically analyzed to investigate the association between the phenotype and genotype of patients. Direct sequencing was conducted for the proband and her parents to detect mutations in the fragment of 18 exons of the...
Topics
- Adolescent
- DNA Copy Number Variations
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Lipids
- Male
- Middle Aged
- Mutation
- Phenotype
- Receptors, LDL
- Sequence Deletion