Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene
about
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)Homozygous 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 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.Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.A unique genetic and biochemical presentation of fish-eye diseaseAssociation of Lecithin Cholesterol Acyltransferase rs5923 Polymorphism in Iranian Individuals with Extremely Low High-Density Lipoprotein Cholesterol: Tehran Lipid and Glucose Study.Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.Chicken lecithin-cholesterol acyltransferase. Molecular characterization reveals unusual structure and expression pattern.In vitro expression of structural defects in the lecithin-cholesterol acyltransferase gene.
P2860
Q24564900-ED544E77-93BC-4E7E-94C2-8D8939D7F9BEQ26828490-1FE73352-75D6-4B5F-AF3F-1DA2D061650AQ28263895-74F8FC48-2B06-4FD7-8547-710C33841B2DQ33891534-42C757CB-7101-48AE-818E-42A1A8E5EF78Q34119817-98C87825-5E01-419F-A2F5-230DD0783BEEQ34386276-4E2B89E9-7F4F-4D3F-AAFA-FF31F56DD379Q36062892-BA3B36A0-BAAF-43ED-914B-0380F0F86601Q47124663-0E759A8E-B261-4D61-8431-630ED0742FEFQ48069326-AF50694B-30E0-4C2F-A772-B91ADBE65B12Q52509864-5C375FE2-4704-491D-A662-7C3D35243D4F
P2860
Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene
description
1991 nî lūn-bûn
@nan
1991 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հուլիսին 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
Lecithin-cholesterol acyltrans ...... ion in exon 6 of the LCAT gene
@ast
Lecithin-cholesterol acyltrans ...... ion in exon 6 of the LCAT gene
@en
Lecithin-cholesterol acyltrans ...... ion in exon 6 of the LCAT gene
@nl
type
label
Lecithin-cholesterol acyltrans ...... ion in exon 6 of the LCAT gene
@ast
Lecithin-cholesterol acyltrans ...... ion in exon 6 of the LCAT gene
@en
Lecithin-cholesterol acyltrans ...... ion in exon 6 of the LCAT gene
@nl
prefLabel
Lecithin-cholesterol acyltrans ...... ion in exon 6 of the LCAT gene
@ast
Lecithin-cholesterol acyltrans ...... ion in exon 6 of the LCAT gene
@en
Lecithin-cholesterol acyltrans ...... ion in exon 6 of the LCAT gene
@nl
P2093
P1476
Lecithin-cholesterol acyltrans ...... ion in exon 6 of the LCAT gene
@en
P2093
T Matozaki
P356
10.1016/0006-291X(91)90129-U
P407
P577
1991-07-31T00:00:00Z