Sökning: "mutation screening"
Visar resultat 1 - 5 av 142 avhandlingar innehållade orden mutation screening.
1. Mutational effects on protein structure and function
Sammanfattning : 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. LÄS MER
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)
Sammanfattning : 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. LÄS MER
3. Biosensor technology applied to hybridization analysis and mutation detection
Sammanfattning : 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. LÄS MER
4. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond
Sammanfattning : 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. LÄS MER
5. Resistance to activated protein C a novel risk factor for venous thrombosis
Sammanfattning : 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. LÄS MER