Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency
about
A plasma lipoprotein containing only apolipoprotein E and with gamma mobility on electrophoresis releases cholesterol from cellsHomozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literatureThe genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency familiesIdentification of three loci affecting HDL-cholesterol levels in a screen for chemically induced recessive mutations in miceStructural and functional properties of two mutants of lecithin-cholesterol acyltransferase (T123I and N228K)Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.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 diseaseA unique genetic and biochemical presentation of fish-eye diseaseStructure and function of lysosomal phospholipase A2 and lecithin:cholesterol acyltransferase.The use of PCR in diagnosing lipoprotein disorders.An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).Glomerular diseases: genetic causes and future therapeutics.Characteristic kidney pathology, gene abnormality and treatments in LCAT deficiency.The polymerase chain reaction. Applications in dermatology.A retractable lid in lecithin:cholesterol acyltransferase provides a structural mechanism for activation by apolipoprotein A-I.In vitro expression of structural defects in the lecithin-cholesterol acyltransferase gene.The low down on lipoprotein lipase.
P2860
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P2860
Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency
description
1991 nî lūn-bûn
@nan
1991 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Differential phenotypic expres ...... rol acyltransferase deficiency
@ast
Differential phenotypic expres ...... rol acyltransferase deficiency
@en
Differential phenotypic expres ...... rol acyltransferase deficiency
@nl
type
label
Differential phenotypic expres ...... rol acyltransferase deficiency
@ast
Differential phenotypic expres ...... rol acyltransferase deficiency
@en
Differential phenotypic expres ...... rol acyltransferase deficiency
@nl
prefLabel
Differential phenotypic expres ...... rol acyltransferase deficiency
@ast
Differential phenotypic expres ...... rol acyltransferase deficiency
@en
Differential phenotypic expres ...... rol acyltransferase deficiency
@nl
P2093
P1433
P1476
Differential phenotypic expres ...... rol acyltransferase deficiency
@en
P2093
J J Albers
N Murayama
P304
P356
10.1016/0140-6736(91)90665-C
P407
P577
1991-09-28T00:00:00Z