Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele

Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele

Item
http://www.wikidata.org/entity/Q28291247
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)The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency familiesGenetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.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 diseaseTrans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.The use of PCR in diagnosing lipoprotein disorders.Chicken lecithin-cholesterol acyltransferase. Molecular characterization reveals unusual structure and expression pattern.A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency.In vitro expression of structural defects in the lecithin-cholesterol acyltransferase gene.
P2860

Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele

Item
http://www.wikidata.org/entity/Q28291247
description
1990 nî lūn-bûn
@nan
1990 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1990年の論文
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1990年学术文章
@wuu
1990年学术文章
@zh-cn
1990年学术文章
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1990年学术文章
@zh-my
1990年学术文章
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1990年學術文章
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name
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
@ast
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
@en
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
@nl
type
label
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
@ast
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
@en
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
@nl
prefLabel
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
@ast
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
@en
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P407
P433
P478
P577
P6179
P698
P356
P1433
P1476
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
@en
P2093
P2888
P304
P31
P356
P407
P433
P478
P577
P6179
P698