Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met)

Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met)

Item
http://www.wikidata.org/entity/Q24564900
Functional lecithin:cholesterol acyltransferase deficiency and high density lipoprotein deficiency in transgenic mice overexpressing human apolipoprotein A-IIA plasma lipoprotein containing only apolipoprotein E and with gamma mobility on electrophoresis releases cholesterol from cellsGenetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis.Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye diseaseClinical and histopathological features of a suspected case of fish-eye disease.A unique genetic and biochemical presentation of fish-eye diseaseAn intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).HDL and atherosclerotic cardiovascular disease: genetic insights into complex biology.Familial lecithin-cholesterol acyltransferase (LCAT) deficiency; a differential of proteinuria.Chicken lecithin-cholesterol acyltransferase. Molecular characterization reveals unusual structure and expression pattern.Lecithin:cholesterol acyltransferase overexpression generates hyperalpha-lipoproteinemia and a nonatherogenic lipoprotein pattern in transgenic rabbits.In vitro expression of structural defects in the lecithin-cholesterol acyltransferase gene.
P2860

Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met)

Item
http://www.wikidata.org/entity/Q24564900
description
1992 nî lūn-bûn
@nan
1992 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Two different allelic mutation ...... cyltransferase (Thr347----Met)
@ast
Two different allelic mutation ...... cyltransferase (Thr347----Met)
@en
Two different allelic mutation ...... cyltransferase (Thr347----Met)
@nl
type
label
Two different allelic mutation ...... cyltransferase (Thr347----Met)
@ast
Two different allelic mutation ...... cyltransferase (Thr347----Met)
@en
Two different allelic mutation ...... cyltransferase (Thr347----Met)
@nl
prefLabel
Two different allelic mutation ...... cyltransferase (Thr347----Met)
@ast
Two different allelic mutation ...... cyltransferase (Thr347----Met)
@en
Two different allelic mutation ...... cyltransferase (Thr347----Met)
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P932
P356
P1433
P1476
Two different allelic mutation ...... cyltransferase (Thr347----Met)
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P932