Search for dissertations about: "DHPLC"

Found 4 swedish dissertations containing the word DHPLC.

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

    Author : Anna Erlandson; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Keywords : CDG 1a; PMM2; Rett syndrome; MECP2; mutations; genotype phenotype; DHPLC; MLPA;

    Abstract : 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. READ MORE

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

    Author : Johanna Andersson; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Keywords : Gastrointestinal stromal tumor GIST ; neurofibromatosis type I NF1 ; mutation; prognosis; denaturating high performance liquid chromatography dHPLC ; sequencing; KIT; PDGFRA; NF1;

    Abstract : 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. READ MORE

  3. 3. Genome mapping of the horse

    Author : Gabriella Lindgren; Uppsala universitet; []
    Keywords : NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; Developmental biology; Horse; microsatellites; linkage analysis; FISH; Type I markers; BAc library; Y chromosome; Utvecklingsbiologi; Developmental biology; Utvecklingsbiologi; Evolutionary Genetics; evolutionär genetik;

    Abstract : 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. READ MORE

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

    Author : Alexander Kovacs; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Abstract : 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. READ MORE