Sökning: "DHPLC"

Hittade 4 avhandlingar innehållade ordet DHPLC.

  1. 1. Genotype/ phenotype correlation of two neuropsychiatric diseases. A genetic study of CDG1a and Rett syndrome

    Detta är en avhandling från Göteborg

    Författare :Anna Erlandson; Göteborgs universitet.; Gothenburg University.; [2003]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CDG 1a; PMM2; Rett syndrome; MECP2; mutations; genotype phenotype; DHPLC; MLPA;

    Sammanfattning : The aim of this thesis was to investigate the effects of mutations in the genes that cause the two neuropsychiatric diseases congenital disorder of glycosylation (CDG) type Ia and Rett syndrome. These two diseases affect children's central and peripheral nervous systems, causing mental retardation and neuronal impairment. LÄS MER

  2. 2. Gastrointestinal stromal tumors. Pathogenetic mechanisms, phenotypic characterization and prognosis

    Detta är en avhandling från Göteborg

    Författare :Johanna Andersson; Göteborgs universitet.; Gothenburg University.; [2005]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gastrointestinal stromal tumor GIST ; neurofibromatosis type I NF1 ; mutation; prognosis; denaturating high performance liquid chromatography dHPLC ; sequencing; KIT; PDGFRA; NF1;

    Sammanfattning : Gastrointestinal stromal tumor (GIST), the most common non-epithelial neoplasm of the gastrointestinal tract, has historically been problematic both conceptually and clinically. Recently, GIST has been shown to share phenotypic features with the interstitial cells of Cajal (ICC), including the almost uniform expression of the tyrosine kinase receptor KIT. LÄS MER

  3. 3. Genome mapping of the horse

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Gabriella Lindgren; [2001]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Developmental biology; Horse; microsatellites; linkage analysis; FISH; Type I markers; BAc library; Y chromosome; Utvecklingsbiologi; NATURAL SCIENCES Biology Organism biology Developmental biology; NATURVETENSKAP Biologi Organismbiologi Utvecklingsbiologi; Evolutionary Genetics; evolutionär genetik;

    Sammanfattning : Our ability to map and sequence whole genomes is one of the most important developments in biological science. It will provide us with an unprecedented insight into the genetic background of phenotypic traits, such as disease resistance, reproduction and growth and also makes it feasible to study the processes of genome evolution. LÄS MER

  4. 4. Human C-reactive protein : Genetic and hormonal regulation and role in atherogenesis

    Detta är en avhandling från Stockholm : Karolinska Institutet, Department of Medicine

    Författare :Alexander Kovacs; Karolinska Institutet.; Karolinska Institutet.; [2007]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Although in decline in the developed world CHD is still the number one killer. The decline is thought to be due to better risk prevention and treatment. C-reactive protein (CRP) has emerged as an marker of CHD. It is associated with several of the major risk factors of CHD. LÄS MER