Article
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.
The Journal of clinical investigation - 1 Sept 1990
Wilson D E, Emi M, Iverius P H, Hata A, Wu L L, Hillas E, Williams R R, Lalouel J M
Abstract excerpt
Familial lipoprotein lipase (LPL) deficiency is a rare genetic disorder accompanied by well-characterized manifestations. The phenotypic expression of heterozygous LPL deficiency has not been so clearly defined. We studied the pedigree of a proband known to be homozygous for a mutation resulting...
Topics
- Adipose Tissue
- Adult
- Age Factors
- Aged
- Base Sequence
- Child
- Cholesterol, HDL
- Cholesterol, LDL
- Cholesterol, VLDL
- Diabetes Complications
- Discriminant Analysis
- Female
- Heterozygote
- Humans
- Lipoprotein Lipase