Article
Familial defective apolipoprotein B-100 in 12 subjects and their kindred.
European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies - 1 Nov 1992
Geisel J, Schleifenbaum T, Oette K, Weisshaar B
Abstract excerpt
Twelve unrelated subjects with heterozygous familial defective apolipoprotein B-100 were identified in a group of 252 patients with type IIa hypercholesterolaemia. Approximately 5% of hypercholesterolaemia can be explained by this mutation in the collective studied. Familial defective apolipoprot...
Topics
- Adolescent
- Adult
- Aged
- Amino Acid Sequence
- Apolipoprotein B-100
- Apolipoproteins B
- Child
- Cholesterol, LDL
- Female
- Genetic Markers
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Mutation
- Pedigree