The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
about
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan originRecent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.Hierarchical Bayesian model for rare variant association analysis integrating genotype uncertainty in human sequence data.Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group.The UMD-LDLR database: additions to the software and 490 new entries to the database.Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptorA single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.Aorta of young and middle-aged heterozygous familial hypercholesterolemia patients shows no functional or morphological impairment assessed by MRI.Software and database for the analysis of mutations in the human LDL receptor gene.Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene."Finnish" mutations in LDL receptor gene: a rare cause of familial hypercholesterolemia in St. Petersburg and Petrozavodsk.LDL-receptor gene mutations and the hypocholesterolemic response to statin therapy.Squalene and noncholesterol sterols in serum and lipoproteins of children with and without familial hypercholesterolemia.Role of known risk factors in explaining the difference in the risk of coronary heart disease between eastern and southwestern Finland.Molecular Genetics of Familial Hypercholesterolaemia: Common and Rare Mutations of the Low Density Lipoprotein Receptor Gene
P2860
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P2860
The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
description
1992 nî lūn-bûn
@nan
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
1992年论文
@zh
1992年论文
@zh-cn
name
The familial hypercholesterole ...... common cause of FH in Finland.
@ast
The familial hypercholesterole ...... common cause of FH in Finland.
@en
type
label
The familial hypercholesterole ...... common cause of FH in Finland.
@ast
The familial hypercholesterole ...... common cause of FH in Finland.
@en
prefLabel
The familial hypercholesterole ...... common cause of FH in Finland.
@ast
The familial hypercholesterole ...... common cause of FH in Finland.
@en
P2093
P2860
P356
P1476
The familial hypercholesterole ...... common cause of FH in Finland.
@en
P2093
Aalto-Setälä K
Koivisto UM
Kovanen PT
Syvänen AC
P2860
P304
P356
10.1172/JCI115839
P407
P577
1992-07-01T00:00:00Z