Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family. [electronic resource]
Producer: 20120411Description: 423-30 p. digitalISSN:- 1879-1484
- Adolescent
- Adult
- Aged
- Animals
- Apolipoprotein B-100 -- genetics
- Apolipoproteins B -- genetics
- COS Cells
- Child
- Chlorocebus aethiops
- Cholesterol, LDL -- genetics
- Family Health
- Female
- Genetic Testing -- methods
- Humans
- Hyperlipoproteinemia Type II -- epidemiology
- Male
- Middle Aged
- Mutagenesis
- Mutation
- Pedigree
- Phenotype
- Proprotein Convertase 9
- Proprotein Convertases -- genetics
- Sequence Analysis, DNA
- Serine Endopeptidases -- genetics
- Spain
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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