Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis. [electronic resource]
Producer: 20200623Description: e1007 p. digitalISSN:- 2324-9269
- Base Sequence -- genetics
- Child, Preschool
- Cholesterol, LDL -- genetics
- Chromosome Mapping -- methods
- Cohort Studies
- Frameshift Mutation -- genetics
- Genetic Variation -- genetics
- Genome, Human -- genetics
- Heterozygote
- Homozygote
- Humans
- Hyperlipoproteinemia Type II -- genetics
- Infant
- Lipoproteins, LDL -- genetics
- Pedigree
- Phenotype
- Receptors, LDL -- genetics
- Sequence Analysis, DNA -- methods
- Exome Sequencing -- methods
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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