Pages that link to "Q34650934"

The following pages link to LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis (Q34650934):

Displaying 42 items.

• A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32 (Q24540252) (← links)
• Solution structure of the LDL receptor EGF-AB pair: a paradigm for the assembly of tandem calcium binding EGF domains (Q27632923) (← links)
• Solution Structure of Factor I-like Modules from Complement C7 Reveals a Pair of Follistatin Domains in Compact Pseudosymmetric Arrangement (Q27655389) (← links)
• Recent 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 (Q28363162) (← links)
• A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26 (Q34145054) (← links)
• Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes (Q34145672) (← links)
• Expression and regulation of a low‐density lipoprotein receptor exon 12 splice variant (Q34385583) (← links)
• Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group (Q34390416) (← links)
• Software and database for the analysis of mutations in the human WT1 gene (Q34647004) (← links)
• The UMD-LDLR database: additions to the software and 490 new entries to the database. (Q34747495) (← links)
• The UMD-p53 database: new mutations and analysis tools (Q35078713) (← links)
• Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database (Q35205978) (← links)
• Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene. (Q38985197) (← links)
• UMD (Universal mutation database): a generic software to build and analyze locus-specific databases (Q40784989) (← links)
• Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome (Q40886617) (← links)
• Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G --> A splice site mutation in the low-density lipoprotein receptor gene (Q40900857) (← links)
• Sequencing of the coding exons of the LRP1 and LDLR genes on individual DNA samples reveals novel mutations in both genes (Q43546741) (← links)
• A G1127S change in calcium-binding epidermal growth factor-like domain 13 of human fibrillin-1 causes short range conformational effects (Q43559273) (← links)
• Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolaemia (Q43818044) (← links)
• Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population (Q44595802) (← links)
• FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations (Q44939183) (← links)
• Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry (Q45041602) (← links)
• Genetic and biochemical analyses in dyslipidemic patients undergoing LDL apheresis (Q45344084) (← links)
• Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels (Q46967625) (← links)
• Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals. (Q47388249) (← links)
• The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations (Q48073221) (← links)
• Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population (Q50133987) (← links)
• Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia (Q50564695) (← links)
• p53 gene mutation: software and database (Q59526222) (← links)
• A Japanese case of familial hypercholesterolemia with a novel mutation in the gene (Q61804934) (← links)
• Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia (Q73001702) (← links)
• A rapid method for detecting mutations of the human LDL receptor gene by complete cDNA sequencing (Q73105064) (← links)
• Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands (Q73589355) (← links)
• Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese (Q73600046) (← links)
• Genetic characterization of Swedish patients with familial hypercholesterolemia: a heterogeneous pattern of mutations in the LDL receptor gene (Q74252638) (← links)
• Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH) (Q75239559) (← links)
• Fluorescence-based single-strand conformation polymorphism analysis of the low density lipoprotein receptor gene by capillary electrophoresis (Q77372975) (← links)
• Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia (Q78048676) (← links)
• Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population (Q78476892) (← links)
• FH‐Pyrgos: a novel mutation in the promoter (−45delT) of the low‐density lipoprotein receptor gene associated with familial hypercholesterolemia (Q79293272) (← links)
• Are common disease susceptibility alleles the same in outbred and founder populations? (Q79966617) (← links)
• Use of PCSK9 Inhibitor in a Mexican Boy with Compound Heterozygous Familial Hypercholesterolemia: A Case Report (Q89912241) (← links)