| Title : Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism - Hill_1993_Biochim.Biophys.Acta_1181_321 |
| Author(s) : Hill JS , O K , Wang X , Pritchard PH |
| Ref : Biochimica & Biophysica Acta , 1181 :321 , 1993 |
|
Abstract :
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-inherited natural polymorphism of LCAT which results in normal enzyme function. |
| PubMedSearch : Hill_1993_Biochim.Biophys.Acta_1181_321 |
| PubMedID: 8318557 |
| Gene_locus related to this paper: human-LCAT |
| Gene_locus | human-LCAT |
Hill JS, O K, Wang X, Pritchard PH (1993)
Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism
Biochimica & Biophysica Acta
1181 :321
Hill JS, O K, Wang X, Pritchard PH (1993)
Biochimica & Biophysica Acta
1181 :321