Sökning: "Mutation testing"

Visar resultat 21 - 25 av 67 avhandlingar innehållade orden Mutation testing.

  1. 21. Padlock Probe-Based Assays for Molecular Diagnostics

    Författare :Anja Mezger; Mats Nilsson; Paul Blainey; Stockholms universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Padlock probes; rolling circle amplification; molecular diagnostics; in situ mutation detection; Biochemistry; biokemi;

    Sammanfattning : Treatment success often depends on the availability of accurate and reliable diagnostic assays to guide clinical practitioners in their treatment choices. An optimal test must excel in specificity and sensitivity, and depending on the application area time, low-cost and simplicity are equally important. LÄS MER

  3. 22. Genetic studies of neurological disorders : Rett syndrome and HD-like familial prion disease

    Författare :Fengqing Xiang; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Huntington s disease HD ; MECP2 gene; mutation; linkage analysis; prion disease; prion protein PrP ; Rett syndrome RTT ; X-chromosome inactivation XCI .;

    Sammanfattning : Rett syndrome (RTT) is a severe childhood neurodevelopmental disorder, which almost exclusively affects females with a prevalence of 1 in 10 000-15 000, >99% of the cases are sporadic. It is commonly thought of as an X-linked dominant disorder lethal to males. LÄS MER

  4. 23. Cancer risks and prognosis in familial melanoma kindreds

    Författare :Hildur Björg Helgadóttir; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Malignant melanoma of the skin is one of the most rapidly increasing cancers in many western countries, including Sweden. This incidence rise is mainly attributed to sun-seeking habits with increased intermittent UVR exposure, a major risk factor for melanoma. LÄS MER

  5. 24. Surviving the ratchet : Modelling deleterious mutations in asexual populations

    Författare :Jonas Söderberg; Otto Berg; Laurence Loewe; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Theoretical biology; Population genetics; Stochastic modelling; Genome evolution; Muller s Ratchet; Genetics; Genetik; Organism biology; Organismbiologi; Biology; Biologi; Biologi med inriktning mot molekylär evolution; Biology with specialization in Molecular Evolution;

    Sammanfattning : One of the most unforgiving processes in nature is that of Muller's ratchet, a seemingly irreversible accumulation of deleterious mutations that all organisms have to deal with or face extinction. The most obvious way to avoid fitness collapse is recombination, though asexual populations usually do not have the luxury of recombining freely. LÄS MER

  7. 25. Structure-activity and resistance studies of HIV-1 protease inhibitors

    Författare :Göran Ahlsén; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Biochemistry; Biokemi; Biochemistry; Biokemi; Biokemi; Biochemistry;

    Sammanfattning : The present investigation was undertaken in order to identify inhibitors of HIV-1 protease that would be efficient in vivo and against HIV-1 protease carrying mutations known to confer resistance to inhibitors in clinical use. A second interest was to understand details of inhibitory mechanisms and to gain understanding of the molecular details of resistance. LÄS MER