Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.

Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.

Item
http://www.wikidata.org/entity/Q43614748
The UCL low-density lipoprotein receptor gene variant database: pathogenicity updateIdentification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment.The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.Exome Sequencing in a Family Identifies RECQL5 Mutation Resulting in Early Myocardial Infarction.Role of genetic changes in the progression of cardiovascular diseases.Early diagnosis and treatment of familial hypercholesterolemia: improving patient outcomes.Transmission of LDLR mutation from donor through liver transplantation resulting in hypercholesterolemia in the recipient.Functional characterization and classification of frequent low-density lipoprotein receptor variants.Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.
P2860

Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.

Item
http://www.wikidata.org/entity/Q43614748
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Functional characterization of ...... variants in the LDL receptor.
@en
Functional characterization of ...... variants in the LDL receptor.
@nl
type
label
Functional characterization of ...... variants in the LDL receptor.
@en
Functional characterization of ...... variants in the LDL receptor.
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prefLabel
Functional characterization of ...... variants in the LDL receptor.
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Functional characterization of ...... variants in the LDL receptor.
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Functional characterization of ...... variants in the LDL receptor.
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P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P921