Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
about
Exome sequencing in suspected monogenic dyslipidemias.Genetic Architecture of Familial Hypercholesterolaemia.Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.Proprotein convertase subtilisin/kexin type 9 (PCSK9) can mediate degradation of the low density lipoprotein receptor-related protein 1 (LRP-1)PCSK9 inhibition fails to alter hepatic LDLR, circulating cholesterol, and atherosclerosis in the absence of ApoE.Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.My Approach to the Patient With Familial Hypercholesterolemia.The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Dysbetalipoproteinaemia: a mixed hyperlipidaemia of remnant lipoproteins due to mutations in apolipoprotein E.Next-generation sequencing applied to rare diseases genomics.Exome sequencing: new insights into lipoprotein disorders.Genetics of familial hypercholesterolemia.Progress in the care of common inherited atherogenic disorders of apolipoprotein B metabolism.Genetics of Lipid and Lipoprotein Disorders and Traits.The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE geneThe M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.Interpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach.Post-transcriptional Regulation of PCSK9 by miR-191, miR-222, and miR-224.A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family.Next generation sequencing applications for cardiovascular disease.New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement.
P2860
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P2860
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Description of a large family ...... the APOE p.Leu167del mutation.
@ast
Description of a large family ...... the APOE p.Leu167del mutation.
@en
type
label
Description of a large family ...... the APOE p.Leu167del mutation.
@ast
Description of a large family ...... the APOE p.Leu167del mutation.
@en
prefLabel
Description of a large family ...... the APOE p.Leu167del mutation.
@ast
Description of a large family ...... the APOE p.Leu167del mutation.
@en
P2093
P2860
P50
P356
P1433
P1476
Description of a large family ...... the APOE p.Leu167del mutation.
@en
P2093
Alice Marques-Pinheiro
Danièle Erlich
French Research Network on ADH
Gina M Peloso
Gérald Luc
Jean-Michel Lecerf
Jean-Philippe Jaïs
Khadija Ouguerram
Knut Erik Berge
Laurent Tosolini
P2860
P356
10.1002/HUMU.22215
P50
P577
2012-10-11T00:00:00Z