Search for dissertations about: "mutation screening."

Showing result 1 - 5 of 134 swedish dissertations containing the words mutation screening..

  1. 1. Mutational effects on protein structure and function

    University dissertation from Linköping : Linköping University Electronic Press

    Author : Jonas Carlsson; Persson Bengt; Uwe Sauer; [2009]
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Mutation; prediction; phenotypes; homology model; virtual screening; molecular dynamics; amyloid; cancer; membrane protein; NATURAL SCIENCES Biology Other biology Bioinformatics; NATURVETENSKAP Biologi Övrig biologi Bioinformatik;

    Abstract : In this thesis several important proteins are investigated from a structural perspective. Some of the proteins are disease related while other have important but not completely characterised functions. READ MORE

  2. 2. Mutation Analysis and Hypercholesterolemia: Studies in FH patients and in healthy middle-aged men with high, low, or increasing cholesterol levels during a six-year follow-up (the CRISS study)

    University dissertation from Lund University Hospital, S-221 85 Lund, Sweden

    Author : Ulf Ekström; [1999]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Klinisk kemi; Clinical chemistry; LDL receptor; Mutation; risk factor; FH; familial hypercholesterolemia;

    Abstract : Our aims were to characterize familial hypercholesterolemia (FH) in a Swedish FH population and to further elucidate the clinical expression and treatment response in relation to genotype. Secondly, we wanted to identify gene variants, which may have impact on cholesterol levels in apparently healthy subjects. READ MORE

  3. 3. Biosensor technology applied to hybridization analysis and mutation detection

    University dissertation from Stockholm : KTH

    Author : Peter Nilsson; [1998]
    Keywords : TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; biosensor; genosensor; surface plasmon resonance; hybridization; nucleic acids; oligonucleotide; mutation detection; mismatch discrimination; modular; TECHNOLOGY Bioengineering; TEKNIKVETENSKAP Bioteknik;

    Abstract : This thesis demonstrates the application of biosensor technology for molecular biology investigations, utilizing a surface plasmon resonance based optical device for mass sensitive detection of biomolecular interactions at a chipsurface. Oligonucleotide model systems were designed for analysis of the action of DNA manipulating enzymes. READ MORE

  4. 4. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond

    University dissertation from Stockholm : KTH

    Author : Annika Bergman; Göteborgs universitet.; Gothenburg University.; [2006]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; BRCA1; BRCA2; breast cancer; hereditary cancer; founder mutation; mutation analysis; linkage analysis; genome scan; BRCAX;

    Abstract : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. READ MORE

  5. 5. Resistance to activated protein C a novel risk factor for venous thrombosis

    University dissertation from Department for Coagulation Disorders, University Hospital, S-205 02 Malmö, Sweden

    Author : Peter Svensson; [1997]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; APC resistance; mutation; venous thrombosis; blood coagulation; Protein C; factor V; Haematology; extracellular fluids; Hematologi; extracellulära vätskor;

    Abstract : Activated protein C resistance (APC resistance) is the most common hereditary condition associated with venous thrombosis. The syndrome known as APC resistance is perfectly linked to a mutation in the gene coding coagulation FV (FV:Q506) mutation changing Arg 506 to Gln in the APC cleavage site. READ MORE