Article
Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene of the FLD phenotype.
Atherosclerosis - 1 Dec 2009
Baass Alexis, Wassef Hanny, Tremblay Michel, Bernier Lise, Dufour Robert, Davignon Jean
Abstract excerpt
Familial LCAT deficiency (FLD) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature corneal opacities, anemia as well as proteinuria and renal failure. We have identified the first French Canadian kindred with familial LCAT deficiency. Two brothers, presenting classical signs of FLD, were shown to be homozygous for a novel LCAT...
Topics
- Adult
- Aged
- Apolipoprotein A-I
- Apolipoprotein E2
- Apolipoproteins B
- Biomarkers
- Cholesterol, HDL
- Cholesterol, LDL
- Chromatography, Gel
- DNA Mutational Analysis
- Electrophoresis, Agar Gel