Familial lecithin-cholesterol acyltransferase: identification of heterozygotes with half-normal enzyme activity and mass

Lecithin-cholesterol acyltransferase (LCAT) mass and activity was measured in Canadian kindred of Italian and Swedish descent with familial LCAT deficiency. Four subjects had LCAT mass of 5.21 +/- 0.87 micrograms/ml (mean +/- SD) and LCAT activity of 98.8 +/- 12.0 nmol/h/ml, well within their respec...

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Veröffentlicht in:	Human genetics 1981-01, Vol.58 (3), p.306-309
Hauptverfasser:	Albers, J J, Chen, C, Adolphson, J L
Format:	Artikel
Sprache:	eng
Schlagworte:	Female Genetic Carrier Screening - methods Humans Hypolipoproteinemias - genetics Lecithin Cholesterol Acyltransferase Deficiency - genetics Male Pedigree Phosphatidylcholine-Sterol O-Acyltransferase - genetics Phosphatidylcholine-Sterol O-Acyltransferase - metabolism Radioimmunoassay - methods Substrate Specificity
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