Paper Report for: Frohlich_1982_Am.J.Hum.Genet_34_65
Reference
Title: Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency Frohlich J, Hon K, McLeod R Ref: American Journal of Human Genetics, 34:65, 1982 : PubMed
"Rocket" immunoelectrophoresis using specific anti-lecithin: cholesterol acyltransferase (LCAT) antiserum showed no immunoreactive protein in two patients with familial LCAT deficiency. Subnormal quantity of plasma LCAT was found in the maternal grandmother, the parents, and in two of four siblings of the patients (3.3-3.4 mg/l vs. 5.4 +/- 0.5 mg/l in 12 controls). The immunochemical quantitation of the enzyme correlated well (r = .93) with LCAT activity in an artificial substrate assay. These two methods allow detection of heterozygotes for LCAT deficiency.
        
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Frohlich J, Hon K, McLeod R (1982) Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency American Journal of Human Genetics34: 65-72
Frohlich J, Hon K, McLeod R (1982) American Journal of Human Genetics34: 65-72