An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease
about
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.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.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 diseaseFamilies with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotypeAn intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).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
Q28263895-6C51D77E-4983-4769-A02B-0E9681485573Q33891534-20A20D1C-096C-4F25-9C8C-E07B055C113DQ34114305-CDB8EAE8-C0FD-4E27-8ECB-29F7795384D1Q34120460-BE3D0669-65B2-456F-A129-157F9B3E55B4Q34362195-22C9AFD1-6F49-4B9B-AD13-D4396B675656Q34386276-A9615917-E9E0-43FA-903D-2D19325424DDQ34386695-02A65F1D-FB77-4E66-B771-B234FEA2AF4BQ37357561-EB0E68B6-C778-4AA6-BEDF-49DABDEF95A0Q51756725-18953D6A-FB97-4751-9B55-FDB6643C9D91Q52509864-F25063ED-5E5D-4E0E-A7CD-58F0A001129F
P2860
An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease
description
1992 nî lūn-bûn
@nan
1992 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հունվարին 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
An amino acid exchange in exon ...... sociated with fish eye disease
@ast
An amino acid exchange in exon ...... sociated with fish eye disease
@en
An amino acid exchange in exon ...... sociated with fish eye disease
@nl
type
label
An amino acid exchange in exon ...... sociated with fish eye disease
@ast
An amino acid exchange in exon ...... sociated with fish eye disease
@en
An amino acid exchange in exon ...... sociated with fish eye disease
@nl
prefLabel
An amino acid exchange in exon ...... sociated with fish eye disease
@ast
An amino acid exchange in exon ...... sociated with fish eye disease
@en
An amino acid exchange in exon ...... sociated with fish eye disease
@nl
P1476
An amino acid exchange in exon ...... sociated with fish eye disease
@en
P2093
P356
10.1016/0006-291X(92)91772-I
P407
P577
1992-01-31T00:00:00Z