Article
Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism.
Biochimica et biophysica acta - 19 Jun 1993
Hill J S, O K, Wang X, Pritchard P H
Abstract excerpt
We have recreated and expressed two known natural mutations within the LCAT gene which were reported on both alleles in a single case of familial LCAT deficiency. We demonstrate that the Ala-93-->Thr mutation is responsible for the biochemical defect while the Arg-158-->Cys mutation is a co-inher...
Topics
- Alanine
- Amino Acid Sequence
- Arginine
- Base Sequence
- Cystine
- Humans
- Lecithin Cholesterol Acyltransferase Deficiency
- Lipoproteins
- Molecular Sequence Data
- Mutation
- Phosphatidylcholine-Sterol O-Acyltransferase
- Polymorphism, Genetic
- Threonine