[Both the enzymatic defect and the localization of the genetic defect has been clarified in the metabolic disease lecithin cholesterol acetyltransferase deficiency].
D006801:Humans; D007009:Hypolipoproteinemias / Q000235:genetics*; D007668:Kidney / Q000473:pathology; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics* / Q000473:pathology; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000235:genetics
D007862:Phosphatidylcholine-Sterol O-Acyltransferase
Både enzymfelet och platsen för gendefekten klarlagda i fettomsättningssjukdomen LCAT-brist.