Article
Phenotypic characterization of a patient homozygous for the D558N LDL receptor gene mutation.
Clinical genetics - 1 Nov 1996
Jensen H K, Jensen L G, Heath F, Melsen F, Hansen P S, Meinertz H, Bolund L, Gregersen N, Faergeman O
Abstract excerpt
We describe the clinical, biochemical, and genetic features of a patient with true homozygous familial hypercholesterolemia due to the D558N low-density lipoprotein receptor gene mutation, previously designated FH Cincinnati-4. Functional flow-cytometric analysis of the LDL receptorR protein on u...
Topics
- Adult
- Arteriosclerosis
- Cell Line, Transformed
- Cells, Cultured
- Chromosomes, Human, Pair 5
- Exons
- Follow-Up Studies
- Homozygote
- Humans
- Hypercholesterolemia
- Leukocytes, Mononuclear
- Mutation
- Phenotype
- Receptors, LDL