The UMD-LDLR database: additions to the software and 490 new entries to the database.
about
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease riskDetection of large deletions in the LDL receptor gene with quantitative PCR methodsFamilial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.Molecular spectrum of autosomal dominant hypercholesterolemia in France.Premature coronary artery disease and familial hypercholesterolemia: need for early diagnosis and cascade screening in the Indian population.Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense VariantsPharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).Familial hypercholesterolemia and response to statin therapy according to LDLR genetic background.The distribution and characteristics of LDL receptor mutations in China: A systematic reviewMolecular studies of pH-dependent ligand interactions with the low-density lipoprotein receptorAdvances in the management of hyperlipidemia-induced atherosclerosis.Genetic variation and atherosclerosis.DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia.Global defects in the expression and function of the low density lipoprotein receptor (LDLR) associated with two familial hypercholesterolemia mutations resulting in misfolding of the LDLR epidermal growth factor-AB pair.Mechanism of LDL binding and release probed by structure-based mutagenesis of the LDL receptor.Simultaneous detection of multiple familial hypercholesterolemia mutations facilitates an improved diagnostic service in South african patients at high risk of cardiovascular disease.Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.The A370T variant (StuI polymorphism) in the LDL receptor gene is not associated with plasma lipid levels or cardiovascular risk in UK men.Calcium-Binding EGF-Like Domains
P2860
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P2860
The UMD-LDLR database: additions to the software and 490 new entries to the database.
description
2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
The UMD-LDLR database: additions to the software and 490 new entries to the database.
@ast
The UMD-LDLR database: additions to the software and 490 new entries to the database.
@en
The UMD-LDLR database: additions to the software and 490 new entries to the database.
@nl
type
label
The UMD-LDLR database: additions to the software and 490 new entries to the database.
@ast
The UMD-LDLR database: additions to the software and 490 new entries to the database.
@en
The UMD-LDLR database: additions to the software and 490 new entries to the database.
@nl
prefLabel
The UMD-LDLR database: additions to the software and 490 new entries to the database.
@ast
The UMD-LDLR database: additions to the software and 490 new entries to the database.
@en
The UMD-LDLR database: additions to the software and 490 new entries to the database.
@nl
P2093
P2860
P50
P356
P1433
P1476
The UMD-LDLR database: additions to the software and 490 new entries to the database
@en
P2093
Claudine Junien
Delphine Allard
Ludovic Villéger
Marianne Abifadel
Rochelle Thiart
P2860
P356
10.1002/HUMU.10102
P577
2002-08-01T00:00:00Z