Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
about
Cerebral cholesterol granuloma in homozygous familial hypercholesterolemiaCharacterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia.Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.Common low-density lipoprotein receptor mutations in the French Canadian populationAdvantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.Molecular basis of familial hypercholesterolemia: An Indian experienceAggregate penetrance of genomic variants for actionable disorders in European and African Americans.Software and database for the analysis of mutations in the human LDL receptor gene.A polymorphism in exon 2 of the human LDL-receptor gene (LDLR).A mutation and an antibody that affect chemical cross-linking of low-density lipoprotein receptors on human fibroblastsValidation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.
P2860
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P2860
Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
description
1989 nî lūn-bûn
@nan
1989 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年学术文章
@wuu
1989年学术文章
@zh-cn
1989年学术文章
@zh-hans
1989年学术文章
@zh-my
1989年学术文章
@zh-sg
1989年學術文章
@yue
name
Identification of a point muta ...... ellular movement of receptors.
@ast
Identification of a point muta ...... ellular movement of receptors.
@en
type
label
Identification of a point muta ...... ellular movement of receptors.
@ast
Identification of a point muta ...... ellular movement of receptors.
@en
prefLabel
Identification of a point muta ...... ellular movement of receptors.
@ast
Identification of a point muta ...... ellular movement of receptors.
@en
P2093
P2860
P921
P356
P1476
Identification of a point muta ...... ellular movement of receptors.
@en
P2093
P2860
P304
P356
10.1073/PNAS.86.11.4166
P407
P577
1989-06-01T00:00:00Z