Article
Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency.
Arteriosclerosis, thrombosis, and vascular biology - 1 Apr 1995
Miettinen H, Gylling H, Ulmanen I, Miettinen T A, Kontula K
Abstract excerpt
Lecithin:cholesterol acyltransferase (LCAT) deficiency is a genetic disorder associated with low levels of serum HDL cholesterol. The proband of the Finnish LCAT-deficient family had corneal opacities, proteinuria, anemia with stomatocytosis, low serum HDL cholesterol (0.27 mmol/L), and low LCAT...
Topics
- Adult
- Aged
- Aged, 80 and over
- Alleles
- Base Sequence
- Cells, Cultured
- Child
- DNA, Complementary
- Female
- Finland
- Gene Transfer Techniques
- Humans
- Lecithin Cholesterol Acyltransferase Deficiency
- Male
- Middle Aged
- Molecular Sequence Data
- Pedigree
- Phosphatidylcholine-Sterol O-Acyltransferase