Global ETD Search

Mutationsanalyse des PRKCG- SCA14)und FGF14-Genes(SCA27) mittels dHPLC bei Ataxie-Patienten

Rentschler, Alexander2010

tuebingen

Detektion von Sequenzvarianten mittels DHPLC : Etablierung als automatisiertes Verfahren zur direkten Mutationsanalyse bei autosomal-rezessiver polyzystischer Nierenerkrankung

Dornia, ChristianPublikationsserver der RWTH Aachen University2006

… sensitivity and the high throughput of samples DHPLC is an appropriate method for the analysis of large multi exon genes. In this study DHPLC was tested for detection of sequence variants in PKHD1. The sensitivity of DHPLC varies with several conditions, particularly with the temperature of …

aachen Repository record for Detektion von Sequenzvarianten mittels DHPLC : Etablierung als automatisiertes Verfahren zur direkten Mutationsanalyse bei autosomal-rezessiver polyzystischer Nierenerkrankung (opens in a new tab)

Sequence Detection and Comparative Analysis of the Hv1 and Hv2 Control Regions of Human Mitochondrial DNA by Denaturing High-Performance Liquid Chromatography

Lewis, Sarah E.2001

… High-Performance Liquid Chromatography (DHPLC) as a sequencingindependent means of detecting the presence of sequence differences in pair-wise mixtures of non-concordant amplicons of human mitochondrial DNA (mtDNA). The reproducibility and efficacy of DHPLC results, including …

denver Repository record for Sequence Detection and Comparative Analysis of the Hv1 and Hv2 Control Regions of Human Mitochondrial DNA by Denaturing High-Performance Liquid Chromatography (opens in a new tab)

PKHD1-Mutationsspektrum bei pädiatrisch betreuten Patienten mit autosomal-rezessiver polyzystischer Nierenerkrankung (ARPKD)

Küpper, Marc FabianPublikationsserver der RWTH Aachen University2006

… longest open reading frame of the PKHD1 gene by DHPLC and sequencing. The significance of each new sequence variation was evaluated by screening a control group of healthy individuals, performing a segregation analysis, and by using bioinformatical methods as well. The mutation detection rate was …

aachen Repository record for PKHD1-Mutationsspektrum bei pädiatrisch betreuten Patienten mit autosomal-rezessiver polyzystischer Nierenerkrankung (ARPKD) (opens in a new tab)

Phänotyp-Genotyp Korrelation für die Autosomal-Dominante Medullary Cystic Kidney Disease auf Chromosom 1q21

Zalewski, Isabella

… mittels direkter Sequenzierung und dHPLC mit 26 Individuuen aus verschiedenen MCKD1-Familien. Claudin-6-Like (CLDN6L) schien uns ein besonders gutes funktionelles Kandidatengen zu sein, einerseits wegen seiner Beteiligung am Aufbau von tight junctions als auch wegen eines …

freiburg-diss Repository record for Phänotyp-Genotyp Korrelation für die Autosomal-Dominante Medullary Cystic Kidney Disease auf Chromosom 1q21 (opens in a new tab)

Functional study of ubiquitin C-terminal hydrolase-L1 gene promoter haplotypes

Sanassy, ShaneUniversity of Southampton2007

… High Performance Liquid Chromatography (dHPLC) and DNA sequencing analysis. In relation to the translational start site, the novel SNPs elucidated were: A-307G, A-306G, G-234A, A-24G, C-16T, G12A and G21A. Restriction Fragment Length Polymorphism (RFLP) genotyping analysis was then …

soton Repository record for Functional study of ubiquitin C-terminal hydrolase-L1 gene promoter haplotypes (opens in a new tab)

Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations

Nossek, CDivision of Human Genetics2010

… high performance liquid chromatography (dHPLC) analysis were used to screen for the seven mutations in a patient cohort and a control cohort. A high detection rate of bi-allelic disease-causing mutations in total of 28/72 patients (i.e. 38.89% were fully characterised) confirmed the …

cape-town Repository record for Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations (opens in a new tab)