Article
Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.
The Journal of clinical investigation - 1 Feb 1993
Funke H, von Eckardstein A, Pritchard P H, Hornby A E, Wiebusch H, Motti C, Hayden M R, Dachet C, Jacotot B, Gerdes U
Abstract excerpt
The presence of lecithin:cholesterol acyltransferase (LCAT) deficiency in six probands from five families originating from four different countries was confirmed by the absence or near absence of LCAT activity. Also, other invariate symptoms of LCAT deficiency, a significant increase of unesterif...
Topics
- Adolescent
- Adult
- Alleles
- Base Sequence
- Female
- Humans
- Lecithin Cholesterol Acyltransferase Deficiency
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Phenotype
- Phosphatidylcholine-Sterol O-Acyltransferase